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Article

An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jul 2005

Kwee Mei Lan, Balemans Wendy, Cleiren Erna, Gille Johan J P, Van Der Blij Frits, Sepers Jan M, Van Hul Wim

Abstract excerpt

Gain-of-function mutations in LRP5 have been shown to cause high BMD disorders showing variable expression of some clinical symptoms, including torus palatinus and neurological complications. In an extended family, we were able to add craniosynostosis and developmental delay to the clinical spectrum associated with LRP5 mutations. We report on an extended four-generation family with 13 affected individuals (7 men...

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Source

Identifiers

PMID: 15940380
DOI: 10.1359/JBMR.050303

Genes

LRP5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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