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Article

A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.

American journal of medical genetics - 15 Jun 2002

Staehling-Hampton Karen, Proll Sean, Paeper Bryan W, Zhao Lei, Charmley Patrick, Brown Analisa, Gardner Jessica C, Galas David, Schatzman Randall C, Beighton Peter, Papapoulos Socrates, Hamersma Herman, Brunkow Mary E

Abstract excerpt

Van Buchem disease is an autosomal recessive sclerosing bone dysplasia characterized by skeletal hyperostosis, overgrowth of the mandible, and a liability to entrapment of the seventh and eighth cranial nerves. The genetic determinant maps to chromosome 17q12-q21. We refined the critical interval to the < 1-Mb region between D17S2250 and D17S2253 in 15 affected individuals, all of whom shared a common disease...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12116252
DOI: 10.1002/ajmg.10401

Genes

MEOX1
SOST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.PMID 12116252Read ↗

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