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Article

Symptomatic mosaicism for a novel FBN1 splice site variant in a parent causing inherited neonatal Marfan syndrome.

American journal of medical genetics. Part A - 1 Aug 2021

Postma Julianne K, Altamirano-Diaz Luis, Rupar C Anthony, Siu Victoria M

Abstract excerpt

Neonatal Marfan syndrome is a severe, early onset presentation of pathogenic variants in FBN1. Because of the significant cardiac involvement and early mortality, nearly all reported cases have been de novo, and the disorder has not been documented to be inherited from a symptomatic parent. Here, we present a female infant with neonatal Marfan syndrome who was born to a father with Marfan syndrome. Prior to the...

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Source

Identifiers

PMID: 33988295
DOI: 10.1002/ajmg.a.62339

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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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