Author:
Jonard Laurence,Feldmann Delphine,Parsy Christophe,Freitag Sylvie,Sinico Martine,Koval Céleste,Grati Mhamed,Couderc Remy,Denoyelle Françoise,Bodemer Christine,Marlin Sandrine,Hadj-Rabia Smail
Subject
Genetics(clinical),Genetics,General Medicine
Reference29 articles.
1. Prevalent connexin 26 gene (GJB2) mutations in Japanese;Abe;J. Med. Genet.,2000
2. A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26;Arita;Am. J. Pathol.,2006
3. Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology;Caceres-Rios;Pediatr. Dermatol.,1996
4. Deafness, ichthyosiform erythroderma, corneal involvement, photophobia and dental dysplasia;Cremers;J. Laryngol. Otol.,1977
5. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment;del Castillo;J. Med. Genet.,2005
Cited by
52 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献