Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency-Reference-Cited by-同舟云学术

Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency

Published:2019-04-09 Issue:6 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Xu Chao¹²³^ORCID,Jia Wenyu¹²³,Cheng Xiangdeng⁴,Ying Hui¹²³,Chen Jing⁵⁶,Xu Jin¹²³,Guan Qingbo¹²³,Zhou Xinli¹²³,Zheng Dongmei¹²³,Li Guimei⁶,Zhao Jiajun¹²³

Affiliation:

1. Department of Endocrinology and Metabolism Shandong Provincial Hospital affiliated to Shandong University Jinan China

2. Institute of Endocrinology Shandong Academy of Clinical Medicine Jinan China

3. Shandong Clinical Medical Center of Endocrinology and Metabolism Jinan China

4. Department of Pediatrics Shandong Provincial Qianfoshan Hospital Jinan China

5. Department of Child Health Xiamen Maternal and Child Health Hospital affiliated to Xiamen University Xiamen China

6. Department of Pediatrics Shandong Provincial Hospital affiliated to Shandong University Jinan China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.671

Reference35 articles.

1. Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency

2. Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients

3. Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease

4. Congenital adrenal hyperplasia

5. Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome

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