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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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Autors principals: Arboleda, VA, Lee, H, Sánchez, FJ, Délot, EC, Sandberg, DE, Grody, WW, Nelson, SF, Vilain, E
Format: Artigo
Idioma:Inglês
Publicat: 2012
Matèries:
Accés en línia: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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