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Article

Caffey disease: new perspectives on old questions.

Bone - 1 Mar 2014

Nistala Harikiran, Mäkitie Outi, Jüppner Harald

Abstract excerpt

The autosomal dominant form of Caffey disease is a largely self-limiting infantile bone disorder characterized by acute inflammation of soft tissues and localized thickening of the underlying bone cortex. It is caused by a recurrent arginine-to-cysteine substitution (R836C) in the α1(I) chain of type I collagen. However, the functional link between this mutation and the underlying pathogenetic mechanisms still...

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Identifiers

PMID: 24389367
DOI: 10.1016/j.bone.2013.12.030
PMCID: PMC3987944

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