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Article

[Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Feb 2016

Li Jing, Luo Yan-Fei, Maimaiti Mireguli

Abstract excerpt

OBJECTIVE: To investigate gene mutations and the relationship between genotypes and clinical phenotypes in Uygur children with 21-hydroxylase deficiency (21-OHD) in Xinjiang, China. METHODS: A total of 20 Uygur children with 21-OHD who visited the hospital between October 2013 and October 2014 were enrolled. Full-length direct sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to...

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Identifiers

PMID: 26903061
PMCID: PMC7403052

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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