Discover Community Create You

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

Article

Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.

American journal of medical genetics. Part A - 1 Nov 2009

Madej-Pilarczyk Agnieszka, Rosińska-Borkowska Danuta, Rekawek Joanna, Marchel Michał, Szaluś Ewa, Jabłońska Stefania, Hausmanowa-Petrusewicz Irena

Abstract excerpt

Hutchinson-Gilford progeria is a rare genetic disorder resulting from mutations in the LMNA gene encoding lamin A/C. In addition to the classical phenotype usually caused by the 1824C>T mutation of LMNA, a number of atypical progeroid syndromes have been described. They have some distinct features, such as skeletal deformities or scleroderma-like skin changes. The underlying defect is usually a homozygous...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Amino Acid Substitution

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Blotting, Western

Share to Homozygote

Share to Lamin Type A

Share to Progeria

Share to Syndrome

Source

Identifiers

PMID: 19842191
DOI: 10.1002/ajmg.a.33018

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.PMID 19842191Read ↗

Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.Semantic proximity Read ↗

Hutchinson-Gilford progeria syndrome caused by an LMNA mutation: a case report.Semantic proximity Read ↗

Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy TreatmentSemantic proximity Read ↗

Atypical progeroid syndrome due to heterozygous missense LMNA mutations.Semantic proximity Read ↗

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

[Analysis of a case with typical Hutchinson-Gilford progeria syndrome with scleroderma-like skin changes and review of literature].Semantic proximity Read ↗

Hutchinson-Gilford progeria syndrome.Semantic proximity Read ↗

An inherited LMNA gene mutation in atypical Progeria syndrome.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 ↗

LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.Semantic proximity Read ↗

Skin Disease in Laminopathy-Associated Premature Aging.Semantic proximity Read ↗

Hutchinson-Gilford progeria syndrome: review of the phenotype.Semantic proximity Read ↗

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