Unequal crossing over between CYP11B2 and CYP11B1 causes 11 β -hydroxylase deficiency in a consanguineous family

Author:

Xiong Yu,Zeng Zhen,Liang Tingting,Yang Pingping,Lu Qingxiang,Yang Jingye,Zhang Jing,Fang Wen,Luo Panyu,Hu Ying,Zhang Miao,Zhou Ding’an

Funder

National Natural Science Foundation of China

Guizhou Provincial Science and Technology Department

Guizhou Provincial Natural Science Foundation

Publisher

Elsevier BV

Subject

Cell Biology,Clinical Biochemistry,Endocrinology,Molecular Biology,Molecular Medicine,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference29 articles.

1. Unequal Crossing-Over between Aldosterone Synthase and 11 -Hydroxylase Genes Causes Congenital Adrenal Hyperplasia;MATHIAS;The Journal of Clinical Endocrinology & Metabolism,2001

2. Congenital adrenal hyperplasia in the adult patient;WL;Adv. Intern Med,1999

3. Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population;Chabraoui L;Horm. Res Paediatr.,2010

4. A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report;Lian Duan;BMC Endocr. Disord.,2018

5. Characterisation of three novel CYP11B1 mutations in classic and non classic 11beta-hydroxylase deficiency;Polat S;Eur. J. Endocrinol.,2014

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