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Article

A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.

Journal of perinatology : official journal of the California Perinatal Association - 1 Apr 2008

Kochilas L, Gundogan F, Atalay M, Bliss J M, Vatta M, Pena L S, Abuelo D

Abstract excerpt

Marfan syndrome in the neonatal age represents a severe early and commonly lethal manifestation of Marfan syndrome, which is caused by mutations in the gene encoding fibrillin-1 (FBN1). Here, we report a newborn with severe Marfan syndrome and a novel mutation involving cysteine substitution within one of the epidermal growth factor-like domains of FBN1.

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Source

Identifiers

PMID: 18379569
DOI: 10.1038/sj.jp.7211915

Genes

FBN1

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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