Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.

American journal of human genetics - 1 Dec 1998

Ikegawa S, Nishimura G, Nagai T, Hasegawa T, Ohashi H, Nakamura Y

Abstract excerpt

Spondylometaphyseal dysplasia (SMD) comprises a heterogeneous group of heritable skeletal dysplasias characterized by modifications of the vertebral bodies of the spine and metaphyses of the tubular bones. The genetic etiology of SMD is currently unknown; however, the type X collagen gene (COL10A...

Topics

Child
Collagen
Female
Genetic Linkage
Heterozygote
Humans
Leg Bones
Male
Mutation, Missense
Open Reading Frames
Osteochondrodysplasias
Pedigree
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Sequence Analysis, DNA

Spine

Source

Open in PubMed Open full text

Identifiers

PMID: 9837818
DOI: 10.1086/302158
PMCID: PMC1377637

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9837818-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.PMID 9837818Read ↗

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 ↗

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

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

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

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaSemantic proximity Read ↗

Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.Semantic proximity Read ↗

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

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

Molecular genetics of chondrodysplasias, including clues to development, structure, and function.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.