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A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family

Microtia, a congenital deformity manifesting as an abnormally shaped or absent external ear, occurs in one out of 8,000–10,000 births. We ascertained a consanguineous Iranian family segregating with autosomal-recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment, and...

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Detalhes bibliográficos
Principais autores: Alasti, Fatemeh, Sadeghi, Abdorrahim, Sanati, Mohammad Hossein, Farhadi, Mohammad, Stollar, Elliot, Somers, Thomas, Van Camp, Guy
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2008
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427268/
https://ncbi.nlm.nih.gov/pubmed/18394579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.02.015
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