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...

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Bibliografiset tiedot
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2013
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Article
Linkit: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
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