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Article

A case of restrictive dermopathy with novel ZMPSTE24 gene mutation.

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

Kim Ji-Young, Kim Seo-Hee, Ji Hyun-Young, Choi Suk-Joo, Oh Soo-Young, Ki Chang-Seok, Roh Cheong-Rae, Kim Jong-Hwa

Abstract excerpt

Fetal restrictive dermopathy (RD) is a rare lethal condition and should be distinguished from other syndromes characterized by fetal akinesia deformation sequence. Fetal RD shows nonspecific ultrasonographic findings, including polyhydramnios, premature rupture of membrane, and fetal growth restriction. Recently, LMNA and ZMPSTE24 were identified as causative genes offering an opportunity for prenatal genetic...

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Source

Identifiers

PMID: 22746836
DOI: 10.2350/11-07-1059-CR.1

Genes

ZMPSTE24
LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A case of restrictive dermopathy with novel ZMPSTE24 gene mutation.PMID 22746836Read ↗

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P18 ZMPSTE24 variant with the lethal phenotype of restrictive dermopathy.Semantic proximity Read ↗

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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.Semantic proximity Read ↗

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.Semantic proximity Read ↗

Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.Semantic proximity Read ↗

A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.Semantic proximity Read ↗

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