Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency-Reference-Cited by-同舟云学术

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Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Published:2022-09 Issue: Volume:222 Page:106156
ISSN:0960-0760
Container-title:The Journal of Steroid Biochemistry and Molecular Biology
language:en
Short-container-title:The Journal of Steroid Biochemistry and Molecular Biology

Author:

Xia Yanjie,Shi Panlai,Gao Shanshan,Liu Ning,Zhang Huijuan,Kong Xiangdong

Funder

Natural Science Foundation of Henan Province

National Key Research and Development Program of China

The First Affiliated Hospital of Zhengzhou University

Publisher

Elsevier BV

Subject

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

Reference35 articles.

1. Congenital adrenal hyperplasia;El-Maouche;Lancet,2017

2. Mechanisms in endocrinology: rare defects in adrenal steroidogenesis;Miller;Eur. J. Endocrinol.,2018

3. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline;Speiser;J. Clin. Endocrinol. Metab.,2018

4. Structure of human steroid 21-hydroxylase genes;White;Proc. Natl. Acad. Sci. USA,1986

5. Genes and pseudogenes: complexity of the RCCX locus and disease;Carrozza;Front Endocrinol. (Lausanne),2021

Cited by 4 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. Novel and Rapid Molecular Diagnosis Methods in Comprehensive Genetic Analysis of 21-hydroxylase Deficiency;2024-04-02

2. Congenital Adrenal Hyperplasia – A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India;Indian Journal of Endocrinology and Metabolism;2024-03

3. A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency;The Journal of Clinical Endocrinology & Metabolism;2023-10-06

4. Genotype-phenotype correlation in patients with 21-hydroxylase deficiency;Frontiers in Endocrinology;2023-03-13

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