HOXA2 Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss

Microtia is a rare, congenital malformation of the external ear that in some cases has a genetic etiology. We ascertained a three-generation family with bilateral microtia and hearing loss segregating as an autosomal dominant trait. Exome sequencing of affected family members detected only seven sha...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Brown, Kerry K., Viana, Lucas M., Helwig, Cecilia C., Artunduaga, Maria A., Quintanilla-Dieck, Lourdes, Jarrin, Patricia, Osorno, Gabriel, McDonough, Barbara, DePalma, Steven R., Eavey, Roland D., Seidman, Jonathan G., Seidman, Christine E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3883620/
https://ncbi.nlm.nih.gov/pubmed/23775976
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22367
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados