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

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

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)303-305
Number of pages3
JournalJournal of Perinatology
Volume28
Issue number4
DOIs
StatePublished - Apr 2008

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