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Article

CRTAP mutation in a patient with Cole-Carpenter syndrome.

American journal of medical genetics. Part A - 1 Mar 2015

Balasubramanian Meena, Pollitt Rebecca C, Chandler Kate E, Mughal M Z, Parker Michael J, Dalton Ann, Arundel Paul, Offiah Amaka C, Bishop Nicholas J

Abstract excerpt

In 1987, Cole and Carpenter reported two unrelated infants with multiple fractures and deformities of bone, with a skeletal phenotype similar to severe osteogenesis imperfecta. In addition, these patients also had proptosis, blue sclerae, hydrocephalus, and a distinct facial gestalt. They were reported to be of normal intelligence. Radiologically, these patients had characteristic skeletal manifestations...

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Source

Identifiers

PMID: 25604815
DOI: 10.1002/ajmg.a.36916

Genes

CRTAP

Variants

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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