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Article

A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.

Clinica chimica acta; international journal of clinical chemistry - 11 Jun 2011

Zhu Yimin, Li Liping, Zhou Lijun, Mei Haibo, Jin Ke, Liu Kun, Xu Wei, Tang Jinsong, Yang Yongjia, Zhao Rui, He Xinyu

Abstract excerpt

BACKGROUND: Metaphyseal Chondrodysplasia type Schmid (MCDS) is an autosomal dominant skeletal dysplasia, characterized by coxa vara, bowlegs, short limbs and an expanded growth plate hypertrophic zone of the long bone. Previous studies have shown gene mutation of COL10A1 (collagen X, consisting three a1(X) chain) causing human MCDS. To our knowledge, there has been no COL10A1 mutation leading to elongation of the...

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PMID: 21447328
DOI: 10.1016/j.cca.2011.03.026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.PMID 21447328Read ↗

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Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.Semantic proximity Read ↗

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Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method.Semantic proximity Read ↗

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Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.Semantic proximity Read ↗

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