Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China

Author:

Su Ling,Yin Xi,Cheng Jing,Cai Yanna,Wu Dongyan,Feng Zhichun,Liu LiORCID

Funder

National ‘Twelfth Five-Year’ Plan for Science and Technology Support

Guangzhou Women and Children's Medical Center/Guangzhou Institute of Pediatrics

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference41 articles.

1. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia;Nimkarn;Pediatr. Clin. N. Am.,2011

2. Congenital adrenal hyperplasia;Speiser;N. Engl. J. Med.,2003

3. The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene;Livadas;Clin. Endocrinol.,2015

4. Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency;New;Proc. Natl. Acad. Sci. U. S. A.,2013

5. Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus;Tusie-Luna;J. Biol. Chem.,1990

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