Mutations in GJB6 cause hidrotic ectodermal dysplasia
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- 1 October 2000
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 26 (2) , 142-144
- https://doi.org/10.1038/79851
Abstract
No abstract availableKeywords
This publication has 13 references indexed in Scilit:
- A 1.5-Mb Physical Map of the Hidrotic Ectodermal Dysplasia (Clouston Syndrome) Gene Region on Human Chromosome 13q11Genomics, 2000
- Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mappingEuropean Journal of Human Genetics, 2000
- Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French familyBritish Journal of Dermatology, 2000
- Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locusNature Genetics, 1999
- A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated familiesHuman Molecular Genetics, 1999
- Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in MediterraneansHuman Molecular Genetics, 1997
- Connexin 26 mutations in hereditary non-syndromic sensorineural deafnessNature, 1997
- Molecular Cloning and Functional Expression of Mouse Connexin-30,a Gap Junction Gene Highly Expressed in Adult Brain and SkinJournal of Biological Chemistry, 1996
- The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13qHuman Molecular Genetics, 1996
- Hidrotic Ectodermal Dysplasia: A Clinical and Ultrastructural ObservationDermatology, 1988