Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding 11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle East a...

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Publicat a:Proc Natl Acad Sci U S A
Autors principals: Khattab, Ahmed, Haider, Shozeb, Kumar, Ameet, Dhawan, Samarth, Alam, Dauood, Romero, Raquel, Burns, James, Li, Di, Estatico, Jessica, Rahi, Simran, Fatima, Saleel, Alzahrani, Ali, Hafez, Mona, Musa, Noha, Razzghy Azar, Maryam, Khaloul, Najoua, Gribaa, Moez, Saad, Ali, Charfeddine, Ilhem Ben, Bilharinho de Mendonça, Berenice, Belgorosky, Alicia, Dumic, Katja, Dumic, Miroslav, Aisenberg, Javier, Kandemir, Nurgun, Alikasifoglu, Ayfer, Ozon, Alev, Gonc, Nazli, Cheng, Tina, Kuhnle-Krahl, Ursula, Cappa, Marco, Holterhus, Paul-Martin, Nour, Munier A., Pacaud, Daniele, Holtzman, Assaf, Li, Sun, Zaidi, Mone, Yuen, Tony, New, Maria I.
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2017
Matèries:
PNAS Plus
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5347606/
https://ncbi.nlm.nih.gov/pubmed/28228528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1621082114
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