G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart–Pumphrey syndrome
✍ Scribed by Fabiana Alexandrino; Edi Lúcia Sartorato; Antonia Paula Marques-de-Faria; Carlos Eduardo Steiner
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 112 KB
- Volume
- 136A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract ## BACKGROUND The retinoic acid (RA)–catabolizing enzyme Cyp26a1 plays an important role in protecting tailbud tissues from inappropriate exposure to RA. __Cyp26a1__‐null animals exhibit caudal agenesis and spina bifida, imperforate anus, agenesis of the caudal portions of the digestiv
## Abstract The __GJB2__ gene located on chromosome 13q12 and encoding the connexin 26 (Cx26) protein, a transmembrane protein involved in cell–cell attachment of almost all tissues, including the skin, causes autosomal recessive and sometimes dominant nonsyndromic sensorineural hearing loss. __GJB