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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126855/ https://www.ncbi.nlm.nih.gov/pubmed/27899157 http://dx.doi.org/10.1186/s13059-016-1105-y |