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Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development
BACKGROUND: One in 4500 children is born with ambiguous genitalia, milder phenotypes occur in one in 300 newborns. Conventional time-consuming hormonal and genetic work-up provides a genetic diagnosis in around 20-40% of 46,XY cases with ambiguous genitalia. All others remain without a definitive di...
Zapisane w:
| Wydane w: | Orphanet J Rare Dis |
|---|---|
| Główni autorzy: | , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BioMed Central
2014
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4271496/ https://ncbi.nlm.nih.gov/pubmed/25497574 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0209-2 |
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