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Article

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

Human molecular genetics - 15 Oct 2004

Navarro Claire L, De Sandre-Giovannoli Annachiara, Bernard Rafaëlle, Boccaccio Irène, Boyer Amandine, Geneviève David, Hadj-Rabia Smail, Gaudy-Marqueste Caroline, Smitt Henk Sillevis, Vabres Pierre, Faivre Laurence, Verloes Alain, Van Essen Ton, Flori Elisabeth, Hennekam Raoul, Beemer Frits A, Laurent Nicole, Le Merrer Martine, Cau Pierre, Lévy Nicolas

Abstract excerpt

Restrictive dermopathy (RD), also called tight skin contracture syndrome (OMIM 275210), is a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, sma...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15317753
DOI: 10.1093/hmg/ddh265

Genes

ZMPSTE24
LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15317753-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.PMID 15317753Read ↗

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.Semantic proximity Read ↗

Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.Semantic proximity Read ↗

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

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

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.Semantic proximity Read ↗

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

A case of restrictive dermopathy with novel ZMPSTE24 gene mutation.Semantic proximity Read ↗

Lethal Restrictive Dermopathy with ZMPSTE24 Mutation.Semantic proximity Read ↗

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Restrictive Dermopathy in Neonates.Semantic proximity Read ↗

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.Semantic proximity Read ↗

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