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

2010 ◽  
Vol 152A (7) ◽  
pp. 1798-1802 ◽  
Author(s):  
Ralf Birkenhäger ◽  
Nicola Lüblinghoff ◽  
Erick Prera ◽  
Christian Schild ◽  
Antje Aschendorff ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Gjb2 Gene ◽  
Palmoplantar Keratoderma ◽  
Clinical Expression

The p.Gly130Val mutation in the GJB2 gene: A familiar case of autosomal dominant non-syndromic hearing loss

2019 ◽  
Vol 127 ◽  
pp. 109653
Author(s):  
Adelaide Bussini ◽  
Rossana Righi ◽  
Chiara Pessina ◽  
Angelo Genoni ◽  
Eliana Cristofari ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Gjb2 Gene ◽  
Syndromic Hearing Loss

New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma

2008 ◽  
Vol 149A (4) ◽  
pp. 685-688 ◽  
Author(s):  
Sandra Iossa ◽  
Viviana Chinetti ◽  
Gennaro Auletta ◽  
Carla Laria ◽  
Maria De Luca ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gjb2 Gene ◽  
Palmoplantar Keratoderma ◽  
Syndromic Hearing Loss ◽  
New Evidence

Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

2015 ◽  
Vol 174 (2) ◽  
pp. 430-432 ◽  
Author(s):  
A. Abdul-Wahab ◽  
T. Takeichi ◽  
L. Liu ◽  
D. Lomas ◽  
B. Hughes ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Recurrent Mutation ◽  
Palmoplantar Keratoderma ◽  
Aquaporin 5
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