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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666572/
https://www.ncbi.nlm.nih.gov/pubmed/25099250
http://dx.doi.org/10.1038/ejhg.2014.130

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666572/
https://www.ncbi.nlm.nih.gov/pubmed/25099250
http://dx.doi.org/10.1038/ejhg.2014.130

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