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Article

Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia.

Clinical genetics - 1 Nov 2018

Cadoff E B, Sheffer R, Wientroub S, Ovadia D, Meiner V, Schwarzbauer J E

Abstract excerpt

Spondylometaphyseal dysplasia (SMD) is characterized by developmental changes in long bones and vertebrae. It has large phenotypic diversity and multiple genetic causes, including a recent link to novel variants in the extracellular matrix (ECM) protein fibronectin (FN), a regulator of ECM assembly and key link between the ECM and proper cell function. We identified a patient with a unique SMD, similar to SMD...

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Identifiers

PMID: 30051459
DOI: 10.1111/cge.13424
PMCID: PMC6175647

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