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...

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Dettagli Bibliografici
Pubblicato in:Orphanet J Rare Dis
Autori principali: Baetens, Dorien, Mladenov, Wilhelm, Delle Chiaie, Barbara, Menten, Björn, Desloovere, An, Iotova, Violeta, Callewaert, Bert, Van Laecke, Erik, Hoebeke, Piet, De Baere, Elfride, Cools, Martine
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2014
Soggetti:
Research
Accesso 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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