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Article

[Clinical and genetic features of pedigrees with NR5A1 related disorders of sex development].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Feb 2026

Li L L, Li X Q, Song Y N, Ren X Y, Fan L J, Gong C X

Abstract excerpt

Objective: To summarize the clinical characteristics of children with disorders of sex development (DSD) carrying NR5A1 gene variations and their families. Methods: A case-series study was conducted. Clinical data were collected and analyzed for of 17 pediatric DSD cases with NR5A1 gene variants and their families at Beijing Children's Hospital, Capital Medical University from January 2010 to December 2024....

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Child
Child, Preschool
Disorders of Sex Development
Infant
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Primary Ovarian Insufficiency

Steroidogenic Factor 1

Source

Identifiers

PMID: 41539956
DOI: 10.3760/cma.j.cn112140-20250916-00845

Genes

NR5A1
AMH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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