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Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development

Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and o...

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Detalhes bibliográficos
Main Authors: Arboleda, VA, Lee, H, Sánchez, FJ, Délot, EC, Sandberg, DE, Grody, WW, Nelson, SF, Vilain, E
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4052834/
https://ncbi.nlm.nih.gov/pubmed/22435390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2012.01879.x
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