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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محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:Proc Natl Acad Sci U S A
المؤلفون الرئيسيون: 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.
التنسيق: Artigo
اللغة:Inglês
منشور في: National Academy of Sciences 2017
الموضوعات:
PNAS Plus
الوصول للمادة أونلاين: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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