The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

OBJECTIVE: Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are reported in 46,XY disorders of sex development (D...

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Hlavní autoři: Köhler, Birgit, Lin, Lin, Mazen, Inas, Cetindag, Cigdem, Biebermann, Heike, Akkurt, Ilker, Rossi, Rainer, Hiort, Olaf, Grüters, Annette, Achermann, John C
Médium: Článek
Jazyk:English
Vydáno: BioScientifica 2009
Témata:
Clinical Study
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2754378/
https://ncbi.nlm.nih.gov/pubmed/19439508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-09-0067
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https://ncbi.nlm.nih.gov/pmc/articles/PMC2754378/
https://ncbi.nlm.nih.gov/pubmed/19439508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-09-0067

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