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...

সম্পূর্ণ বিবরণ

সংরক্ষণ করুন:
গ্রন্থ-পঞ্জীর বিবরন
প্রকাশিত:Proc Natl Acad Sci U S A
প্রধান লেখক: 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.
বিন্যাস: Artigo
ভাষা:Inglês
প্রকাশিত: National Academy of Sciences 2017
বিষয়গুলি:
PNAS Plus
অনলাইন ব্যবহার করুন: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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