Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia-Reference-Cited by-同舟云学术

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Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia

Published:2021-07 Issue: Volume:211 Page:105899
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:

Wang Wencui,Han Rulai,Yang Zuwei,Zheng Sichang,Li Haorong,Wan Zhihan,Qi Yan,Sun Shouyue,Ye Lei,Ning Guang

Publisher

Elsevier BV

Subject

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

Reference38 articles.

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

2. The next 150 years of congenital adrenal hyperplasia;Turcu;J. Steroid Biochem. Mol. Biol.,2015

3. CYP21A2 mutation update: comprehensive analysis of databases and published genetic variants;Simonetti;Hum. Mutat.,2018

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

5. One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study;Gidlöf;Lancet Diabetes Endocrinol.,2013

Cited by 15 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. Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing;The Journal of Molecular Diagnostics;2024-09

2. Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS;European Journal of Medical Genetics;2024-06

3. Identification and functional characterization of compound heterozygous CYP11B1 gene mutations;Endocrine;2024-01-29

4. Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China;2024

5. Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS Short title: CYP21A2 genotyping using MALDI-TOF MS;2023-09-29

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