MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration
Abstract
Disorders of sex development (DSDs) are defined as congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. In many DSD cases, genetic causes remain to be elucidated. Here, we performed a case-control exome sequencing study comparing gene-based burdens of rare damaging variants between 26 DSD cases and 2625 controls. We found exome-wide significant enrichment of rare heterozygous truncating variants in the MYRF gene...
Paper Details
Title
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration
Published Date
Apr 1, 2019
Journal
Volume
28
Issue
14
Pages
2319 - 2329
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