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A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci

Archive ouverte | Modamio-Hoybjor, S | CCSD

International audience. Key Points Nonsyndromic sensorineural hearing impairment (NSSHI) is the most common form of genetic deafness. Approximately 20% of cases segregate as autosomal dominant (AD) traits, for wh...

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

Archive ouverte | del Castillo, F | CCSD

International audience

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29

Archive ouverte | Modamio-Høybjør, Silvia | CCSD

International audience. Hereditary non-syndromic sensorineural hearing loss (NSSHL) is a genetically highly heterogeneous group of disorders. Autosomal dominant forms account for up to 20% of cases. To date, 39 loci...

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