TheGJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness-Reference-Cited by-同舟云学术

TheGJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness

Published:2005 Issue:2 Volume:137A Page:225-227
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Feldmann Delphine,Denoyelle Françoise,Blons Hélène,Lyonnet Stanislas,Loundon Natalie,Rouillon Isabelle,Hadj-Rabia Smail,Petit Christine,Couderc Rémy,Garabédian Eréa-Noel,Marlin Sandrine

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. Connexin 26 gene linked to a dominant deafness

2. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

3. Large deletion of theGJB6gene in deaf patients heterozygous for theGJB2gene mutation: Genotypic and phenotypic analysis

4. De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss

5. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

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4. Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss;Biomolecules;2021-01-05

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