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Article

Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance.

Acta paediatrica (Oslo, Norway : 1992) - 1 Aug 2009

Liang Lili, Zhang Huiwen, Gu Xuefan

Abstract excerpt

AIM: To describe two Chinese siblings of atypical Hutchinson-Gilford progeria syndrome (HGPS), with genetic diagnosis and special clinical manifestation. METHODS: We screened the LMNA gene in four members of a consanguineous family, in which two children were suffering from atypical HGPS. Besides general HGPS features, such as growth retardation and characteristic appearance, special clinical phenotypes including...

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Source

Identifiers

PMID: 19432833
DOI: 10.1111/j.1651-2227.2009.01324.x

Genes

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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