Article
A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations.
American journal of medical genetics. Part A - 1 Jul 2018
Kim Shinn Young, Ko Hyun-Sun, Kim Namshin, Yim Seon-Hee, Jung Seung-Hyun, Kim Jiwoong, Lee Myung-Duk, Chung Yeun-Jun
Abstract excerpt
The etiology of imperforate anus, a major phenotype of anorectal malformation (ARM), is still unknown and not a single gene has been reported to be associated with it. We studied a Korean family with six affected members with imperforate anus across three generations by whole exome sequencing and identified a missense mutation in the EBF2 gene (c.215C > T; p.Ala72Val). This mutation is completely segregated with...
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