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Article

Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2021

Dhooge Tibbe, Syx Delfien, Hermanns-Lê Trinh, Hausser Ingrid, Mortier Geert, Zonana Jonathan, Symoens Sofie, Byers Peter H, Malfait Fransiska

Abstract excerpt

PURPOSE: Infantile Caffey disease is a rare disorder characterized by acute inflammation with subperiosteal new bone formation, associated with fever, pain, and swelling of the overlying soft tissue. Symptoms arise within the first weeks after birth and spontaneously resolve before the age of two years. Many, but not all, affected individuals carry the heterozygous pathogenic COL1A1 variant (c.3040C>T,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34272483
DOI: 10.1038/s41436-021-01274-y

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