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Article

Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia.

Human molecular genetics - 1 Mar 1994

Dharmavaram R M, Elberson M A, Peng M, Kirson L A, Kelley T E, Jimenez S A

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Identifiers

PMID: 8012364
DOI: 10.1093/hmg/3.3.507

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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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia.PMID 8012364Read ↗

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.Semantic proximity Read ↗

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

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.Semantic proximity Read ↗

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 ↗

A novel COL10A1 mutation in a Chinese pedigree with Schmid type metaphyseal chondrodysplasia.Semantic proximity Read ↗

Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasiaSemantic proximity Read ↗

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

Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.Semantic proximity Read ↗

Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.Semantic proximity Read ↗

Skeletal diseases caused by mutations that affect collagen structure and function.Semantic proximity Read ↗

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome)Semantic proximity Read ↗

Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.Semantic proximity Read ↗

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