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Article

Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.

Aging - 1 Jun 2013

Starke Sven, Meinke Peter, Camozzi Daria, Mattioli Elisabetta, Pfaeffle Roland, Siekmeyer Manuela, Hirsch Wolfgang, Horn Lars Christian, Paasch Uwe, Mitter Diana, Lattanzi Giovanna, Wehnert Manfred, Kiess Wieland

Abstract excerpt

The clinical course of a female patient affected by a progeroid syndrome with Restrictive Dermopathy (RD)-like features was followed up. Besides missing hairiness, stagnating weight and growth, RD-like features including progressive skin swelling and solidification, acrocontractures, osteolysis a...

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Source

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Identifiers

PMID: 23804595
DOI: 10.18632/aging.100566
PMCID: PMC3824411

Genes

LMNA
ZMPSTE24

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23804595-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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