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Article

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.

Cold Spring Harbor molecular case studies - 1 Oct 2022

Elgaz Sümeyye, Wittekindt Boris, Esmaeili Anoosh, Fischer Sebastian, Bolz Hanno J, Zechner Ulrich, Buxmann Horst

Abstract excerpt

Neonatal Marfan syndrome (nMFS) is a rare and severe form of Marfan syndrome (MFS) with a poor prognosis, that presents with a highly variable phenotype, particularly regarding skeletal, ocular, and cardiovascular manifestations. Mutations in the fibrillin-1 (FBN1) gene are known as the principal cause of MFS and MFS-related syndromes. Here, we report on a full-term female neonate with postnatal characteristics...

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Identifiers

PMID: 36307213
DOI: 10.1101/mcs.a006213
PMCID: PMC9632361

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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