Affiliation: Christie Hospital
- Nail patella syndrome: a review of the phenotype aided by developmental biologyE Sweeney
Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK
J Med Genet 40:153-62. 2003..NPS is caused by loss of function mutations in the transcription factor LMX1B at 9q34. The expansion of the clinical phenotype is supported by the role of LMX1B during development...
- Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotypeE Sweeney
Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children s Hospital, UK
Clin Dysmorphol 9:177-82. 2000..We review the features of previously reported patients and emphasise the variability in the phenotype of Char syndrome...
- A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndromeR Day
Cheshire and Merseyside Genetics Service, Royal Liverpool Children s Hospital, Alder Hey, Liverpool, UK
Clin Genet 74:434-44. 2008..It remains possible that this rare condition is heterogeneous and therefore caution must be undertaken during counselling until the underlying genetic mechanism(s) is (are) identified...
- Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlationF Zhao
Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, 10029, USA
Am J Hum Genet 69:695-703. 2001..This genotype-phenotype correlation supports the existence of TFAP2 coactivators that have tissue specificity and are important for ductal development but less critical for craniofacial and limb development...
- Nail patella syndrome revisited: 50 years after linkageI McIntosh
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N Broadway BRB 407, Baltimore, MD 21205, USA
Ann Hum Genet 69:349-63. 2005....