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Article

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

American journal of medical genetics. Part A - 1 Dec 2013

Takenouchi Toshiki, Hida Mariko, Sakamoto Yoshiaki, Torii Chiharu, Kosaki Rika, Takahashi Takao, Kosaki Kenjiro

Abstract excerpt

Recently, three marfanoid patients with congenital lipodystrophy and a neonatal progeroid appearance were reported. Although their phenotype was distinct from that of classic Marfan syndrome, they all had a truncating mutation in the penultimate exon, i.e., exon 64, of FBN1, the causative gene for Marfan syndrome. These patients might represent a new entity, but the exact phenotypic and genotypic spectrum remains...

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Source

Identifiers

PMID: 24039054
DOI: 10.1002/ajmg.a.36157

Genes

FBN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.PMID 24039054Read ↗

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