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

doi:10.1038/ejhg.2013.258

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

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

European journal of human genetics : EJHG - 1 Aug 2014

Navarro Claire Laure, Esteves-Vieira Vera, Courrier Sébastien, Boyer Amandine, Duong Nguyen Thuy, Huong Le Thi Thanh, Meinke Peter, Schröder Winnie, Cormier-Daire Valérie, Sznajer Yves, Amor David J, Lagerstedt Kristina, Biervliet Martine, van den Akker Peter C, Cau Pierre, Roll Patrice, Lévy Nicolas, Badens Catherine, Wehnert Manfred, De Sandre-Giovannoli Annachiara

Abstract excerpt

Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density and pulmonary insufficiency generally leading to death in the perinatal period. RD is caused in most patients by compound heterozygous or homozygous ZMPSTE24 null mutations. This gene encodes a metalloprotease...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Contracture

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fetal Growth Retardation

Share to Founder Effect

Share to Introns

Share to Metalloendopeptidases

Share to Progeria

Share to RNA Splice Sites

Share to Skin Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 24169522
DOI: 10.1038/ejhg.2013.258
PMCID: PMC4350588

Genes

ZMPSTE24

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.PMID 24169522Read ↗

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

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

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

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

Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature.Semantic proximity Read ↗

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.Semantic proximity Read ↗

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

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

A Case of Restrictive Dermopathy With Atypical Cardiac Anomalies and a Novel ZMPSTE24 Variant.Semantic proximity Read ↗

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

Restrictive dermopathy: report of two siblings.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.