Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes–Brocks Syndrome

A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole-exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. The DACT1 c.1256G>A;p.Trp419(*) variant segregated app...

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Publicado en:Hum Mutat
Main Authors: Webb, Bryn D., Metikala, Sanjeeva, Wheeler, Patricia G., Sherpa, Mingma D., Houten, Sander M., Horb, Marko E., Schadt, Eric E.
Formato: Artigo
Idioma:Inglês
Publicado: 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5390682/
https://ncbi.nlm.nih.gov/pubmed/28054444
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23171
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