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Article

Spondylar dysplasia in type X collagenopathy.

Pediatric radiology - 1 Feb 2001

Nishimura G, Manabe N, Kosaki K, Haga N, Ohashi H, Nakamura K, Ikegawa S

Abstract excerpt

BACKGROUND: The type X collagen gene (COL10A1) is currently known as the disease-causing gene of metaphyseal dysplasia type Schmid (MDS), whereas a mutation of COL10A1 has been reported to cosegregate with a disease phenotype of mild spondylometaphyseal dysplasia (SMD) in a Japanese family. OBJECTIVE: To elucidate whether or not spondylar dysplasia is common in patients with mutations of COL10A1. MATERIALS AND...

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Identifiers

PMID: 11214689
DOI: 10.1007/s002470000394

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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 · 9 closest

Spondylar dysplasia in type X collagenopathy.PMID 11214689Read ↗

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.Semantic proximity Read ↗

Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.Semantic proximity Read ↗

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

Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.Semantic proximity Read ↗

Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.Semantic proximity Read ↗

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 ↗

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

Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.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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