polydactyly

Summary

Summary: A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.

Top Publications

  1. Phadke S, Sankar V. Polydactyly and genes. Indian J Pediatr. 2010;77:277-81 pubmed publisher
    ..Genetics of hand development and genes involved in polydactyly syndromes is discussed in this article as a prototype to know about genetics of malformations: how it is ..
  2. Johnston J, Olivos Glander I, Killoran C, Elson E, Turner J, Peters K, et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005;76:609-22 pubmed
    ..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis...
  3. Bahr C, Wittenberg K, Distl O. [Case report--polydactyly in a German holstein calf]. Dtsch Tierarztl Wochenschr. 2003;110:333-5 pubmed
    A female German Holstein twin calf showed polydactyly in both front limbs and in one of the hind limbs. In three limbs an additional medial toe was seen...
  4. Lettice L, Heaney S, Purdie L, Li L, de Beer P, Oostra B, et al. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet. 2003;12:1725-35 pubmed
    ..Here, we show that the chromosome 7q36 associated preaxial polydactyly, a frequently observed congenital limb malformation, results from point mutations in a Shh regulatory element...
  5. Robb E, Delany M. The expression of preaxial polydactyly is influenced by modifying genetic elements and is not maintained by chromosomal inversion in an avian biomedical model. Cytogenet Genome Res. 2012;136:50-68 pubmed publisher
    b>Polydactyly (Po) is a common mutation found in many vertebrates. The UCD-Po.003 congenic chicken line was previously characterized for Po inheritance (autosomal dominant) and the mutation was mapped to chromosome 2p...
  6. Vierkotten J, Dildrop R, Peters T, Wang B, Ruther U. Ftm is a novel basal body protein of cilia involved in Shh signalling. Development. 2007;134:2569-77 pubmed
    ..Furthermore, the absence of Ftm in arthropods underlines the divergence between vertebrate and Drosophila Hh pathways...
  7. Zhang Z, Sui P, Dong A, Hassell J, Cserjesi P, Chen Y, et al. Preaxial polydactyly: interactions among ETV, TWIST1 and HAND2 control anterior-posterior patterning of the limb. Development. 2010;137:3417-26 pubmed publisher
    Preaxial polydactyly (PPD) is a common limb-associated birth defect characterized by extra digit(s) in the anterior autopod. It often results from ectopic sonic hedgehog (Shh) expression in the anterior limb bud...
  8. Albuisson J, Isidor B, Giraud M, Pichon O, Marsaud T, David A, et al. Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly. Clin Genet. 2011;79:371-7 pubmed publisher
    Pre-axial polydactyly type II (PPDII, MIM #174500), Werner mesomelic syndrome (MIM %188770) and Haas polysyndactyly (MIM #186200) are a group of closely related conditions caused by mutations in a long-range Sonic hedgehog (SHH, MIM *..
  9. Hill R. How to make a zone of polarizing activity: insights into limb development via the abnormality preaxial polydactyly. Dev Growth Differ. 2007;49:439-48 pubmed
    ..Preaxial polydactyly (PPD) is a commonly occurring limb abnormality; investigating the genetic basis of this defect has provided ..

More Information

Publications62

  1. Cardenas Rodriguez M, Badano J. Ciliary biology: understanding the cellular and genetic basis of human ciliopathies. Am J Med Genet C Semin Med Genet. 2009;151C:263-80 pubmed publisher
  2. Wieczorek D, Pawlik B, Li Y, Akarsu N, Caliebe A, May K, et al. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. Hum Mutat. 2010;31:81-9 pubmed publisher
    ..with unknown molecular etiology characterized by hypo- or aplasia of the tibiae in addition to the preaxial polydactyly (PPD) of the hands and feet and/or five-fingered hand with absence of thumbs...
  3. Bouldin C, Harfe B. Aberrant FGF signaling, independent of ectopic hedgehog signaling, initiates preaxial polydactyly in Dorking chickens. Dev Biol. 2009;334:133-41 pubmed publisher
    The formation of supernumerary digits, or polydactyly, is a common congenital malformation...
  4. Gurnett C, Bowcock A, Dietz F, Morcuende J, Murray J, Dobbs M. Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly. Am J Med Genet A. 2007;143A:27-32 pubmed
    ..highly conserved ZRS have been described in the hemimelic extra toes mouse and in four families with preaxial polydactyly [Lettice et al., 2003]...
  5. Mirzaa G, Parry D, Fry A, Giamanco K, Schwartzentruber J, Vanstone M, et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014;46:510-515 pubmed publisher
    ..genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387)...
  6. Garavelli L, Guareschi E, Errico S, Simoni A, Bergonzini P, Zollino M, et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case. Neuropediatrics. 2007;38:200-3 pubmed
    ..patients with a new MCA/MR syndrome characterized by severe congenital MEG with polymicrogyria (PMG), postaxial polydactyly (POLY) and hydrocephalus (HYD)...
  7. Liska F, Snajdr P, Sedova L, Seda O, Chylíková B, Slámová P, et al. Deletion of a conserved noncoding sequence in Plzf intron leads to Plzf down-regulation in limb bud and polydactyly in the rat. Dev Dyn. 2009;238:673-84 pubmed publisher
    Lx mutation in SHR.Lx rat manifests in homozygotes as hindlimb preaxial polydactyly. It was previously mapped to a chromosome 8 segment containing the Plzf gene...
  8. Furuichi T, Dai J, Cho T, Sakazume S, Ikema M, Matsui Y, et al. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. J Med Genet. 2011;48:32-7 pubmed publisher
    ..Mutations in the gene that encodes for CANT1 (calcium-activated nucleotidase 1) have been identified in a subset of patients with DD type 1...
  9. Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H, et al. Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. Eur J Hum Genet. 2012;20:705-8 pubmed publisher
    ..In addition, one affected individual showed a polydactyly and right-sided tibial hemimelia...
  10. Sagai T, Masuya H, Tamura M, Shimizu K, Yada Y, Wakana S, et al. Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh). Mamm Genome. 2004;15:23-34 pubmed
    ..Absence of the conserved sequence in limbless reptiles and amphibians and a cis- trans test using the Hx and Shh KO alleles suggest that the sequence is a cis-acting regulator that controls the polarized expression of Shh...
  11. Chen Y, Knezevic V, Ervin V, Hutson R, Ward Y, Mackem S. Direct interaction with Hoxd proteins reverses Gli3-repressor function to promote digit formation downstream of Shh. Development. 2004;131:2339-47 pubmed
    ..Enforced expression of any of several 5'Hoxd genes causes polydactyly of different distinct digit types with posterior transformations in a Gli3(+) background, whereas, in Gli3 null ..
  12. Slavotinek A, Dutra A, Kpodzo D, Pak E, Nakane T, Turner J, et al. A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?. Am J Med Genet A. 2004;129A:69-72 pubmed
    ..caused by complete lack of Müllerian fusion with vaginal agenesis or Müllerian aplasia (MA), postaxial polydactyly (PAP), and tetralogy of Fallot...
  13. Fujioka H, Ariga T, Horiuchi K, Otsu M, Igawa H, Kawashima K, et al. Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. Clin Genet. 2005;67:429-33 pubmed
    ..of digital abnormality such as Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly...
  14. Tribioli C, Lufkin T. Bapx1 homeobox gene gain-of-function mice show preaxial polydactyly and activated Shh signaling in the developing limb. Dev Dyn. 2006;235:2483-92 pubmed
    ..We show that transgenic mice overexpressing Bapx1 are affected by skeletal defects including hindlimb preaxial polydactyly and tibial hypoplasia...
  15. Yang M, Liu J, Wang Y, Lang H, Miao X, Zhang L, et al. Effects of electromagnetic pulse on polydactyly of mouse fetuses. Theriogenology. 2013;80:18-23 pubmed publisher
    ..To determine the effects of electromagnetic pulse (EMP) on polydactyly of mouse fetuses, pregnant mice were sham-exposed or exposed to EMP (400 kV/m with 400 pulses) from Days 7 to ..
  16. Laurell T, Vandermeer J, Wenger A, Grigelioniene G, Nordenskjold A, Arner M, et al. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. Hum Mutat. 2012;33:1063-6 pubmed publisher
    ..have been proposed based on the limb phenotype; single base changes throughout the region cause preaxial polydactyly (PPD), single base changes at one specific site cause Werner mesomelic syndrome, and large duplications cause ..
  17. Wechsler S, Lehoczky J, Hall J, Innis J. Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. Clin Dysmorphol. 2004;13:63-9 pubmed
    ..We report the first female patient with this syndrome. The patient had tibial aplasia, mirror image preaxial polydactyly involving her feet, brachyphalangy, genital hypoplasia as well as facial dysmorphism including telecanthus, ..
  18. Innis J, Hedera P. Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome. Am J Med Genet A. 2004;131:77-81 pubmed
  19. Mirzaa G, Dodge N, Glass I, Day C, Gripp K, Nicholson L, et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics. 2004;35:353-9 pubmed
    ..We report five unrelated children with severe congenital MEG associated with polymicrogyria (PMG), postaxial polydactyly (POLY) and hydrocephalus (HYD).
  20. Luo J, Fu C, Yao K, Hu R, DU Q, Liu Z. [A case-control study on genetic and environmental factors regarding polydactyly and syndactyly]. Zhonghua Liu Xing Bing Xue Za Zhi. 2009;30:903-6 pubmed
    To explore the genetic and environmental factors related to the development of polydactyly and syndactyly, and to provide evidence for prevention on birth defects.
  21. Zhang Z, Verheyden J, Hassell J, Sun X. FGF-regulated Etv genes are essential for repressing Shh expression in mouse limb buds. Dev Cell. 2009;16:607-13 pubmed publisher
    ..factor genes Etv4 and Etv5 in mouse led to ectopic Shh expression in the anterior limb bud and a preaxial polydactyly (PPD) skeletal phenotype...
  22. Mao J, McGlinn E, Huang P, Tabin C, McMahon A. Fgf-dependent Etv4/5 activity is required for posterior restriction of Sonic Hedgehog and promoting outgrowth of the vertebrate limb. Dev Cell. 2009;16:600-6 pubmed publisher
    ..This study identifies another level of genetic interaction between the orthogonal axes during limb development...
  23. Man L, Chang B. Maternal cigarette smoking during pregnancy increases the risk of having a child with a congenital digital anomaly. Plast Reconstr Surg. 2006;117:301-8 pubmed
    The U.S. Natality database from 2001 and 2002 was used to investigate the relationship between maternal cigarette smoking during pregnancy and the risk of having a child with polydactyly, syndactyly, or adactyly.
  24. Goldfarb C, Patterson J, Maender A, Manske P. Thumb size and appearance following reconstruction of radial polydactyly. J Hand Surg Am. 2008;33:1348-53 pubmed publisher
    To evaluate thumb size, shape, and appearance after surgical correction of radial polydactyly.
  25. Johnston J, Sapp J, Turner J, Amor D, Aftimos S, Aleck K, et al. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010;31:1142-54 pubmed publisher
    ..with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable ..
  26. Lettice L, Williamson I, Wiltshire J, Peluso S, Devenney P, Hill A, et al. Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactyly. Dev Cell. 2012;22:459-67 pubmed publisher
    ..Two point mutations within the ZRS change the profile of ETS binding and activate Shh expression at an ectopic site in the limb bud. These molecular changes define a pathogenetic mechanism that leads to preaxial polydactyly (PPD).
  27. Lettice L, Hill A, Devenney P, Hill R. Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly. Hum Mol Genet. 2008;17:978-85 pubmed
    ..The congenital abnormality preaxial polydactyly, extra digits, is an example of this novel class of mutations and is caused by ectopic expression of the ..
  28. Babbs C, Furniss D, Morriss Kay G, Wilkie A. Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog. Mech Dev. 2008;125:517-26 pubmed publisher
    The mouse mutant Doublefoot (Dbf) shows preaxial polydactyly with 6-9 triphalangeal digits in all four limbs and additional abnormalities including a broadened skull, hydrocephalus, and a thickened, kinked tail...
  29. Tore H, McKinney A, Nagar V, Lohman B, Truwit C, Raybaud C. Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings. AJNR Am J Neuroradiol. 2009;30:1620-2 pubmed publisher
    Megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome has been recently recognized and is very rare. Each case reported so far has demonstrated hydrocephalus to varying degrees...
  30. Guven M, Uzel M, Ceylaner S, Coskun A, Ceylaner G, Gungoren A. A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail. Genet Couns. 2008;19:419-24 pubmed
    We are presenting a prenatally diagnosed case with sirenomelia, vestigial tail and polydactyly. A 30-year-old woman at 16 weeks of gestation with dichorionic twins was admitted to the hospital...
  31. Koolen D, Herbergs J, Veltman J, Pfundt R, van Bokhoven H, Stroink H, et al. Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. J Hum Genet. 2006;51:721-6 pubmed
    ..HPE, epilepsy, mild pyramidal syndrome of the legs, ventricular septal defect, vesicoureteral reflux, preaxial polydactyly, and facial dysmorphisms...
  32. Gripp K, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman Sagie T, et al. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. Am J Med Genet A. 2009;149A:868-76 pubmed publisher
    ..patients with macrocephaly and polymicrogyria, and additional anomalies seen in megalencephaly polymicrogyria-polydactyly hydrocephalus (MPPH) and macrocephaly capillary malformation (MCM) syndromes...
  33. Semerci C, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, et al. Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes. Clin Genet. 2009;76:85-90 pubmed publisher
    Preaxial polydactyly is a common limb malformation in humans with variable clinical expression. Different types of triphalangeal thumb-preaxial polydactyly phenotypes were mapped to the chromosome 7q36 region...
  34. Cheng B, Dong Y, He L, Tang W, Yu H, Lu J, et al. Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree. J Clin Lab Anal. 2006;20:133-8 pubmed
    b>Polydactyly is one of the most common forms of congenital malformation in humans, and is displayed by 119 disorders...
  35. Dunn I, Paton I, Clelland A, Sebastian S, Johnson E, McTeir L, et al. The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development. Dev Dyn. 2011;240:1163-72 pubmed publisher
    ..ZRS region of Lmbr1, a limb specific cis-regulatory element of Sonic hedgehog (Shh), are associated with polydactyly in humans, cats, and mice...
  36. Maas S, Fallon J. Single base pair change in the long-range Sonic hedgehog limb-specific enhancer is a genetic basis for preaxial polydactyly. Dev Dyn. 2005;232:345-8 pubmed
    In most instances of preaxial polydactyly (PPD), Sonic Hedgehog (Shh), an essential limb patterning signal, is ectopically expressed in an anterior region of the developing limb in addition to the normal posterior domain...
  37. Lettice L, Hill R. Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities. Curr Opin Genet Dev. 2005;15:294-300 pubmed
    ..limb-specific regulatory element of the SHH gene are responsible for the human limb abnormality called preaxial polydactyly (PPD)...
  38. Quinn M, Haaning A, Ware S. Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice. Hum Mol Genet. 2012;21:1888-96 pubmed publisher
    ..GLI3, a mediator of hedgehog signaling, is a genetic cause of limb malformations including pre- and postaxial polydactyly, Pallister-Hall syndrome and Greig cephalopolysyndactyly...
  39. Huang Y, Deng X, Du Z, Qiu X, Du X, Chen W, et al. Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated with chicken polydactyly. Gene. 2006;374:10-8 pubmed
    b>Polydactyly is a common malformation of vertebrate limbs. Preaxial polydactyly (PPD) has been mapped in human, mouse and chicken to the syntenic region of human 7q36...
  40. Furniss D, Lettice L, Taylor I, Critchley P, Giele H, Hill R, et al. A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb. Hum Mol Genet. 2008;17:2417-23 pubmed publisher
    A locus for triphalangeal thumb, variably associated with pre-axial polydactyly, was previously identified in the zone of polarizing activity regulatory sequence (ZRS), a long range limb-specific enhancer of the Sonic Hedgehog (SHH) gene ..
  41. Dorshorst B, Okimoto R, Ashwell C. Genomic regions associated with dermal hyperpigmentation, polydactyly and other morphological traits in the Silkie chicken. J Hered. 2010;101:339-50 pubmed publisher
    ..A single SNP in a highly conserved cis-regulatory region of Sonic Hedgehog was significantly associated with polydactyly (Po)...
  42. Bremond Gignac D, Gerard Blanluet M, Copin H, Bitoun P, Baumann C, Crolla J, et al. Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. Am J Med Genet A. 2005;134:422-5 pubmed
    ..5 years. The singleton patient showed typical WAGR syndrome and preaxial hallucal polydactyly. Molecular cytogenetic studies refined the identification of the extent of the deleted segments, which were not ..
  43. Eskandari M, Oztuna V, Demirkan F. Late psychosocial effects of congenital hand anomaly. Hand Surg. 2004;9:257-9 pubmed
    ..Herein, two adult cases of untreated thumb polydactyly are presented. Both of them had hands with striking appearance and late consequent psychosocial problems.
  44. Farooq M, Troelsen J, Boyd M, Eiberg H, Hansen L, Hussain M, et al. Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS. Eur J Hum Genet. 2010;18:733-6 pubmed publisher
    ..on transcription factor binding of a novel ZRS point mutation (463T>G) in a Pakistani family with preaxial polydactyly and triphalangeal thumb...
  45. Akiyama H, Stadler H, Martin J, Ishii T, Beachy P, Nakamura T, et al. Misexpression of Sox9 in mouse limb bud mesenchyme induces polydactyly and rescues hypodactyly mice. Matrix Biol. 2007;26:224-33 pubmed
    ..The mutant mouse embryos exhibited polydactyly in limb buds in association with ectopic expression of Sox5 and Sox6 although markers for the different axes of ..
  46. Mirzaa G, Conway R, Gripp K, Lerman Sagie T, Siegel D, Devries L, et al. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A. 2012;158A:269-91 pubmed publisher
    ..malformation-polymicrogyria syndrome), and the more recently described megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of ..
  47. Patterson V, Damrau C, Paudyal A, Reeve B, Grimes D, Stewart M, et al. Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway. Hum Mol Genet. 2009;18:1719-39 pubmed publisher
    ..of Shh signalling leads to multiple birth defects, including holoprosencephaly, neural tube defects and polydactyly, and in adults results in tumours of the skin or central nervous system...
  48. Andrade N, Raikwar K. Congenital benign teratoma of the tongue with bifid tip, ankyloglossia and polydactyly: report of a case. Br J Oral Maxillofac Surg. 2010;48:e29-30 pubmed publisher
    ..We describe a combination of anomalies in a 6-week-old infant with teratoma and bifid tip of the tongue, severe tongue tie, and polydactyly. The teratoma was excised and the tongue tie released with no complications.
  49. Davey M, Paton I, Yin Y, Schmidt M, Bangs F, Morrice D, et al. The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling. Genes Dev. 2006;20:1365-77 pubmed
    ..These results suggest that the talpid3 protein operates in the cytoplasm to regulate the activity of both Gli repressor and activator proteins...
  50. Kalsoom U, Klopocki E, Wasif N, Tariq M, Khan S, Hecht J, et al. Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. J Med Genet. 2013;50:47-53 pubmed publisher
    Postaxial polydactyly (PAP) type A is characterised by well-formed functionally developed 5th digit duplication in hands and/or feet. It is genetically heterogeneous condition, inherited both in autosomal recessive and dominant manners...
  51. Biesecker L. What you can learn from one gene: GLI3. J Med Genet. 2006;43:465-9 pubmed
    ..These topics are reviewed in turn, in the context of the clinical and biological data derived from patients with mutations in GLI3 and experimental work in model systems...
  52. Yen C, Chan W, Leung H, Mak K. Thumb polydactyly: clinical outcome after reconstruction. J Orthop Surg (Hong Kong). 2006;14:295-302 pubmed
    To evaluate clinical and cosmetic outcomes of reconstruction in thumb polydactyly and prognostic value of the Wassel classification.
  53. Marion V, Stutzmann F, Gerard M, De Melo C, Schaefer E, Claussmann A, et al. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet. 2012;49:317-21 pubmed publisher
    ..Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by polydactyly, retinitis pigmentosa, obesity, cognitive impairment, and kidney dysfunction...