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Article

P18 ZMPSTE24 variant with the lethal phenotype of restrictive dermopathy.

19 Dec 2025

Abstract excerpt

Restrictive dermopathy (RD) is a rare, lethal, congenital autosomal recessive laminopathy syndrome characterized by generalised tight translucent skin, dysmorphic facies, arthrogryposis multiplex congenita, and pulmonary hypoplasia. It is caused by mutations in either ZMPSTE24 or LMNA. Variants in these genes, which disrupt the production of lamin A, and hence the structural integrity of the nuclear envelope, can...

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Identifiers

PMID: 41413000
DOI: 10.1093/bjd/ljaf465.026

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