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Article

A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome.

American journal of medical genetics. Part A - 15 May 2005

Hur David J, Raymond Gerald V, Kahler Stephen G, Riegert-Johnson Douglas L, Cohen Bernard A, Boyadjiev Simeon A

Abstract excerpt

Keutel syndrome (KS) [OMIM 245150] is a rare autosomal recessive condition, characterized by abnormal cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been previously reported in three unrelated KS families. MGP is an extracellular matrix protein that acts as a calcifi...

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Source

Identifiers

PMID: 15810001
DOI: 10.1002/ajmg.a.30680

Genes

MGP
BMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15810001-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome.PMID 15810001Read ↗

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