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Article

[Analysis of a child with mucopolysaccharidoses type I due to compound heterozygous variants of IDUA gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2022

Jia Haiting, Wang Chunhua, Liu Yi

Abstract excerpt

OBJECTIVE: To analyze the clinical and genetic characteristics of a child with mucopolysaccharidoses type I. METHODS: Enzymatic and genetic testing were carried out for the child who was admitted due to contraction of fingers and flexion deformity of lower limbs. The child was subjected to target exome capture sequencing. Candidate variants were verified by Sanger sequencing of the child, her parents and two...

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Identifiers

PMID: 36184100
DOI: 10.3760/cma.j.cn511374-20210920-00763

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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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