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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Arboleda, VA, Lee, H, Sánchez, FJ, Délot, EC, Sandberg, DE, Grody, WW, Nelson, SF, Vilain, E
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2012
Gaiak:
Sarrera elektronikoa: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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