The rare case of 46,XX testicular disorder of sex development carrying a heterozygous p.Arg92Trp variant in<i>NR5A1</i>-Reference-Cited by-同舟云学术

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The rare case of 46,XX testicular disorder of sex development carrying a heterozygous p.Arg92Trp variant inNR5A1

Published:2022-12-31 Issue:2 Volume:19 Page:115-119
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Kim Lia¹^ORCID,Kim Hwa Young²^ORCID,Ko Jung Min¹³^ORCID

Affiliation:

1. Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children’s Hospital, Seoul, Korea

2. Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea

3. Rare Disease Center, Seoul National University Hospital, Seoul, Korea

Publisher

Korean Society of Medical Genetics

Subject

General Earth and Planetary Sciences,General Environmental Science

Link

http://pdf.medrang.co.kr/JGM/2022/019/jgm-19-2-115.pdf

Reference20 articles.

1. Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects

2. Molecular Characterization of XX Maleness

3. Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development

4. 46,XX Sex Reversal

5. Consensus statement on management of intersex disorders

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