Article
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.
European journal of human genetics : EJHG - 1 Apr 2015
Eggers Stefanie, Smith Katherine R, Bahlo Melanie, Looijenga Leendert H J, Drop Stenvert L S, Juniarto Zulfa A, Harley Vincent R, Koopman Peter, Faradz Sultana M H, Sinclair Andrew H
Abstract excerpt
Disorders of sex development (DSDs) encompass a broad spectrum of conditions affecting the development of the gonads and genitalia. The underlying causes for DSDs include gain or loss of function variants in genes responsible for gonad development or steroidogenesis. Most patients with DSD have an unknown genetic etiology and cannot be given an accurate diagnosis. We used whole exome capture and massively...
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