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Article

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.

American journal of medical genetics. Part A - 1 Jun 2014

Sípek Antonín, Grodecká Lucie, Baxová Alice, Cibulková Petra, Dvořáková Magdaléna, Mazurová Stella, Magner Martin, Zeman Jiří, Honzík Tomáš, Freiberger Tomáš

Abstract excerpt

Marfan syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin 1 gene (FBN1). Neonatal form of MFS is rare and is associated with severe phenotype and a poor prognosis. We report on a newborn girl with neonatal MFS who displayed cyanosis and dyspnea on the first day of life. The main clinical features included mitral and tricuspid valve insufficiency, aortic root dilatation,...

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Source

Identifiers

PMID: 24668922
DOI: 10.1002/ajmg.a.36480

Genes

FBN1

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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.

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