Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non‐syndromic microtia and distinctive ear morphology

Microtia is a congenital defect affecting external ears, which appear smaller and sometimes malformed. Here we describe a five‐generation family with isolated bilateral microtia segregating as an autosomal dominant trait. Similar features have been previously observed in an autosomal dominant family...

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Veröffentlicht in:	Clinical genetics 2017-05, Vol.91 (5), p.774-779
Hauptverfasser:	Piceci, F., Morlino, S., Castori, M., Buffone, E., De Luca, A., Grammatico, P., Guida, V.
Format:	Artikel
Sprache:	eng
Schlagworte:	Congenital Microtia - etiology Congenital Microtia - genetics Ear - abnormalities Ears & hearing Female Genes, Dominant genotype–phenotype correlation Homeodomain Proteins - genetics HOXA2 Humans Male microtia Mutation Pedigree Pregnancy
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