<scp><i>HOXA</i></scp><i>2</i>Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss

<scp><i>HOXA</i></scp><i>2</i>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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Bibliografski detalji
Glavni autori: Kerry K. Brown, Lucas Moura Viana, Cecilia C. Helwig, Maria A. Artunduaga, Lourdes Quintanilla‐Dieck, Patricia Jarrin, Gabriel Osorno, Barbara McDonough, Steven R. DePalma, Roland D. Eavey, Jonathan G. Seidman, Christine E. Seidman
Format: Artigo
Jezik:engleski
Izdano: 2013
Online pristup:https://doi.org/10.1002/humu.22367
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https://doi.org/10.1002/humu.22367

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