21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations-Reference-Cited by-同舟云学术

21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations

Published:2016-04 Issue: Volume:108 Page:47-55
ISSN:0039-128X
Container-title:Steroids
language:en
Short-container-title:Steroids

Author:

Wang Ruifang,Yu Yongguo,Ye Jun,Han Lianshu,Qiu Wenjuan,Zhang Huiwen,Liang Lili,Gong Zhuwen,Wang Lili,Gu Xuefan

Publisher

Elsevier BV

Subject

Organic Chemistry,Clinical Biochemistry,Pharmacology,Endocrinology,Molecular Biology,Biochemistry

Reference39 articles.

1. Congenital adrenal hyperplasia;Merke;Lancet,2005

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

3. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline;Speiser;J. Clin. Endocrinol. Metab.,2010

4. Multiplex ligation-dependent probe amplification assay for diagnosis of congenital adrenal hyperplasia;Jang;Ann. Clin. Lab. Sci.,2011

5. Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency;Lee;Mol. Genet. Metab.,2008

Cited by 34 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort;The Journal of Clinical Endocrinology & Metabolism;2024-07-25

2. Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency;Journal of Endocrinological Investigation;2023-10-10

3. Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome;Annals of Pediatric Endocrinology & Metabolism;2023-06-30

4. Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS);Hormones;2023-03-23

5. Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency;Frontiers in Endocrinology;2023-03-17