Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene

✍ Scribed by Ralf Birkenhäger; Nicola Lüblinghoff; Erick Prera; Christian Schild; Antje Aschendorff; Susan Arndt

• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 187 KB
• Volume: 152A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.33464