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Article

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

The Journal of clinical investigation - 1 May 2005

Gensure Robert C, Mäkitie Outi, Barclay Catherine, Chan Catherine, Depalma Steven R, Bastepe Murat, Abuzahra Hilal, Couper Richard, Mundlos Stefan, Sillence David, Ala Kokko Leena, Seidman Jonathan G, Cole William G, Jüppner Harald

Abstract excerpt

Infantile cortical hyperostosis (Caffey disease) is characterized by spontaneous episodes of subperiosteal new bone formation along 1 or more bones commencing within the first 5 months of life. A genome-wide screen for genetic linkage in a large family with an autosomal dominant form of Caffey di...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15864348
DOI: 10.1172/JCI22760
PMCID: PMC1087158

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15864348-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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