46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing

BACKGROUND: 46,XY disorders of sex development (DSD) comprise a heterogeneous group of congenital conditions. Mutations in a variety of genes can affect gonadal development or androgen biosynthesis/action and thereby influence the development of the internal and external genital organs. OBJECTIVE: T...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Werner, Ralf, Merz, Hartmut, Birnbaum, Wiebke, Marshall, Louise, Schröder, Tatjana, Reiz, Benedikt, Kavran, Jennifer M., Bäumer, Tobias, Capetian, Philipp, Hiort, Olaf
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2015
Assuntos:
JCEM Online: Advances in Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4490300/
https://ncbi.nlm.nih.gov/pubmed/25927242
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2015-1314
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