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Article

Lethal Restrictive Dermopathy with ZMPSTE24 Mutation.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Pradeep Immanuel, Gowrishankar Kalpana, Shanmugasundaram Lakshmi

Abstract excerpt

Lethal restrictive dermopathy is genodermatoses associated with lamin protein defects resulting in connective tissue abnormalities of skin, musculoskeletal, and adipose tissue. We report one such case with a mutation in the ZMPSTE24 gene which is involved in lamin protein synthesis, resulting in fetal akinesia or hypokinesia deformation sequence. Early recognition in the perinatal period of distinctive clinical...

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Identifiers

PMID: 34961372
DOI: 10.1177/10935266211065316

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