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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...
Gorde:
| Argitaratua izan da: | J Clin Endocrinol Metab |
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| Egile Nagusiak: | , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Endocrine Society
2015
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| Gaiak: | |
| Sarrera elektronikoa: | 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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