Article
The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes.
International journal of pediatric otorhinolaryngology - 1 Aug 2015
Lameiras Ana Rita, Gonçalves Ana Cláudia, Santos Ricardo, O'Neill Assunção, Reis Luís Roque Dos, Matos Tiago Daniel, Fialho Graça, Caria Helena, Escada Pedro
Abstract excerpt
INTRODUCTION: Recent advances in molecular genetics have increased the identification of genes and mutations responsible for inherited forms of hearing loss (HL), enabling early detection of these cases. Approximately, 60% of early-onset HL cases are due to genetic causes, of which 70% are non-syndromic. Of these, 75-80% are inherited in an autosomal recessive pattern (DFNB). Mutations in GJB2 gene, coding for...
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