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Article

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome.

Nature genetics - 1 Jan 1999

Munroe P B, Olgunturk R O, Fryns J P, Van Maldergem L, Ziereisen F, Yuksel B, Gardiner R M, Chung E

Abstract excerpt

Keutel syndrome (KS, MIM 245150) is an autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and midfacial hypoplasia. A genome search using homozygosity mapping provided evidence of linkage to chromosome 12p12.3-13.1 (maximum multipoint lod score, 4.06). MGP was a candidate on the basis of its localization to this chromosomal region and the known function...

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Source

Identifiers

PMID: 9916809
DOI: 10.1038/5102

Genes

MGP

Provenance

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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Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome.PMID 9916809Read ↗

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