- Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutationDeborah J Shears
Department of Clinical and Molecular Genetics, Institute of Child Health, London, UK
Am J Med Genet 110:153-7. 2002..In addition, the mutation may disrupt a nuclear localization signal in SHOX. This is the first SHOX point mutation identified in a case of LMD, and the first case in which parent to child transmission of LMD has been described...
- Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humansStephen P Robertson
Weatherall Institute of Molecular Medicine, Room 304, The John Radcliffe, Headley Way, Oxford OX3 9DS, UK
Nat Genet 33:487-91. 2003....
- Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphomaDeborah J Shears
Br J Haematol 121:377-9. 2003
- Kantaputra mesomelic dysplasia: a second reported familyDeborah J Shears
Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 3EH, United Kingdom
Am J Med Genet A 128:6-11. 2004..This is only the second reported family affected with Kantaputra mesomelic dysplasia (MIM 156232), a distinct mesomelic skeletal dysplasia...
- Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversityStephen P Robertson
Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin, New Zealand
Am J Med Genet A 140:1726-36. 2006..This observation suggests that locus heterogeneity may exist for this disorder...