Molecular study and genotype–phenotype in Chinese female patients with 46, XY disorders of sex development-Reference-Cited by-同舟云学术

Molecular study and genotype–phenotype in Chinese female patients with 46, XY disorders of sex development

Published:2021-08-02 Issue:10 Volume:37 Page:934-940
ISSN:0951-3590
Container-title:Gynecological Endocrinology
language:en
Short-container-title:Gynecological Endocrinology

Author:

Xia Junke¹,Wu Jing²,Chen Chen¹,Zhao Zhenhua¹,Xie Yanchuan³,Bai Zhouxian¹,Kong Xiangdong¹

Affiliation:

1. Center of Genetic and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China

2. Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China

3. Department of Central Laboratory, the First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China

Funder

National Key Research and Development Program of China Supported by Ministry of Science and Technology

Publisher

Informa UK Limited

Subject

Obstetrics and Gynecology,Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.tandfonline.com/doi/pdf/10.1080/09513590.2021.1960307

Reference33 articles.

1. Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development

2. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

3. A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient

4. The XY female and SWYER syndrome

5. Care of women with XY karyotype: a clinical practice guideline

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1. Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants;Frontiers in Genetics;2024-06-10

2. 46,XY disorders of sex development: the use of NGS for prevalent variants;Human Genetics;2022-06-21