Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase def...
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
About this item
Full title
Author / Creator
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 , Azar, Maryam Razzghy , Khaloul, Najoua , Gribaa, Moez , Saad, Ali , Charfeddine, Ilhem Ben , de Mendonça, Berenice Bilharinho , 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 and New, Maria I.
Publisher
United States: National Academy of Sciences
Journal title
Language
English
Formats
Publication information
Publisher
United States: National Academy of Sciences
Subjects
More information
Scope and Contents
Contents
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 and North Africa, where consanguinity is common oft...
Alternative Titles
Full title
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Authors, Artists and Contributors
Author / Creator
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
Azar, Maryam Razzghy
Khaloul, Najoua
Gribaa, Moez
Saad, Ali
Charfeddine, Ilhem Ben
de Mendonça, Berenice Bilharinho
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5347606
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5347606
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1621082114
