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

doi:10.1038/sj.jp.7211915

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

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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 language	English (US)
Pages (from-to)	303-305
Number of pages	3
Journal	Journal of Perinatology
Volume	28
Issue number	4
DOIs	https://doi.org/10.1038/sj.jp.7211915
State	Published - Apr 2008
Externally published	Yes

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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.",

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AU - Vatta, M.

AU - Pena, L. S.

AU - Abuelo, D.

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

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