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Article

The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).

Journal of human genetics - 1 Jan 2008

Cho Tae-Joon, Moon Hyuk Ju, Cho Dae-Yeon, Park Moon Seok, Lee Dong Yeon, Yoo Won Joon, Chung Chin Youb, Choi In Ho

Abstract excerpt

Infantile cortical hyperostosis (ICH) is characterized by spontaneous episodes of subperiosteal new bone formation in the long bones, mandible, and clavicle during infancy. A heterozygous missense mutation, c.3040C > T (p.R1014C), in the type I collagen alpha1 chain gene (COL1A1) was reported in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18704262
DOI: 10.1007/s10038-008-0328-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18704262-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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