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[Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2023

Dong Xiaoyun, Zheng Xuan, Lin Fatao, Fang Shuanfeng, Dong Hui, Wang Shaowen

Abstract excerpt

OBJECTIVE: To analyze the clinical features and genotype of a child with Schmid type metaphyseal chondrodysplasia. METHODS: Clinical data of the child and her parents was collected. The child was subjected to high-throughput sequencing, and candidate variant was verified by Sanger sequencing of her family members. RESULTS: Whole exome sequencing revealed that the child has harbored a heterozygous c.1772G>A...

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PMID: 37368390
DOI: 10.3760/cma.j.cn511374-20220504-00305

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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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