A novel SRY pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293-Reference-Cited by-同舟云学术

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A novel SRY pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293

Published:2021-08 Issue:8 Volume:9 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Qin Shengfang¹^ORCID,Wang Xueyan¹,Li Yunxing¹

Affiliation:

1. Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Hospital for Women and Children Chengdu China

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.4706

Reference30 articles.

1. A SEX-CHROMOSOME ANOMALY IN A CASE OF GONADAL DYSGENESIS (TURNER'S SYNDROME)

2. A Case of Human Intersexuality Having a Possible XXY Sex-Determining Mechanism

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

4. Sex determination. What makes a man a man;McLaren A;Nature,1990

5. Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex‐reversed patients;Domenice S;Braz J Med Biol Res,2004

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