Article
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
Journal of medical genetics - 1 Mar 2004
Cryns K, Orzan E, Murgia A, Huygen P L M, Moreno F, del Castillo I, Chamberlin G Parker, Azaiez H, Prasad S, Cucci R A, Leonardi E, Snoeckx R L, Govaerts P J, Van de Heyning P H, Van de Heyning C M, Smith R J H, Van Camp G
Abstract excerpt
INTRODUCTION: Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene is widely available as a genetic diagnostic test. OBJECTIVE: To assess a possible genotype-phenotype correlation for GJB...
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