A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy
Authors:
- 7 February 2010
- journal article
- research article
- Published by Springer Nature in Archives of Dermatological Research
- Vol. 302 (9) , 701-703
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
- A novel splice-site mutation in theCDH3gene in hypotrichosis with juvenile macular dystrophyClinical and Experimental Dermatology, 2008
- P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicleDevelopment, 2008
- Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophyClinical and Experimental Dermatology, 2007
- p63 regulates an adhesion programme and cell survival in epithelial cellsNature Cell Biology, 2006
- Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)Journal of Medical Genetics, 2005
- Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular DystrophyJournal of Investigative Dermatology, 2003
- C-Cadherin Ectodomain Structure and Implications for Cell Adhesion MechanismsScience, 2002
- Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherinNature Genetics, 2001
- Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27The American Journal of Human Genetics, 2000