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Article

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

American journal of medical genetics. Part A - 1 Apr 2011

Horn Denise, Robinson Peter N

Abstract excerpt

The association of progeroid features and lipodystrophy was very recently described in a female adult with additional manifestations of Marfan syndrome. Mutation analysis of the fibrillin I (FBN1) gene revealed a novel heterozygous frameshift mutation at the 3' end in that patient. Here, we report on a 3.5-year-old girl with progeroid facial signs of neonatal onset, lipodystrophy, large head circumference with...

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Source

Identifiers

PMID: 21594993
DOI: 10.1002/ajmg.a.33905

Genes

FBN1

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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Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.PMID 21594993Read ↗

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