Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

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 u...

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Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Eggers, Stefanie, Smith, Katherine R, Bahlo, Melanie, Looijenga, Leendert HJ, Drop, Stenvert LS, Juniarto, Zulfa A, Harley, Vincent R, Koopman, Peter, Faradz, Sultana MH, Sinclair, Andrew H
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2015
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4666572/
https://ncbi.nlm.nih.gov/pubmed/25099250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.130
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