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Article

A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).

Human molecular genetics - 1 Mar 2011

Chen I-Ping, Wang Liping, Jiang Xi, Aguila Hector Leonardo, Reichenberger Ernst J

Abstract excerpt

Craniometaphyseal dysplasia (CMD) is a rare genetic disorder with hyperostosis of craniofacial bones and widened metaphyses in long bones. Patients often suffer from neurological symptoms due to obstruction of cranial foramina. No proven treatment is available and the pathophysiology is largely u...

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Source

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Identifiers

PMID: 21149338
DOI: 10.1093/hmg/ddq541
PMCID: PMC3033186

Genes

ENPP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21149338-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).PMID 21149338Read ↗

Introduction of a Phe377del Mutation in ANK Creates a Mouse Model for Craniometaphyseal DysplasiaSemantic proximity Read ↗

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Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.Semantic proximity Read ↗

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Dental Anomalies Associated with Craniometaphyseal Dysplasia.Semantic proximity Read ↗

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.Semantic proximity Read ↗

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