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Article

Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.

Clinical genetics - 1 Feb 2012

Ahmad Z, Phadke S R, Arch E, Glass J, Agarwal A K, Garg A

Abstract excerpt

Restrictive dermopathy (RD) results in stillbirth or early neonatal death. RD is characterized by prematurity, intrauterine growth retardation, fixed facial expression, micrognathia, mouth in the 'o' position, rigid and tense skin with erosions and denudations and multiple joint contractures. Nearly all 25 previously reported neonates with RD had homozygous or compound heterozygous null mutations in the ZMPSTE24...

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Source

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Identifiers

PMID: 21108632
DOI: 10.1111/j.1399-0004.2010.01580.x
PMCID: PMC3117019

Genes

ZMPSTE24
LMNA

Variants

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.

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