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

被引：3

作者：

Kochilas, L. ^{[1
,2
,3
]}

Gundogan, F. ^{[3
,4
]}

Atalay, M. ^{[1
,3
]}

Bliss, J. M. ^{[3
,5
]}

Vatta, M. ^{[6
]}

Pena, L. S. ^{[6
]}

Abuelo, D. ^{[3
,7
]}

机构：

[1] Rhode Isl Hosp, Div Pediat Cardiol, Dept Diagnost Imaging, Providence, RI 02903 USA

[2] Hasbro Childrens Hosp, Div Pediat Cardiol, Dept Pediat, Providence, RI USA

[3] Brown Univ, Warren Alpert Med Sch, Providence, RI 02912 USA

[4] Brown Univ, Women & Infants Hosp, Dept Pathol, Providence, RI USA

[5] Brown Univ, Women & Infants Hosp, Dept Pediat, Providence, RI 02908 USA

[6] Texas Childrens Hosp, Baylor Coll Med, John Welsh Cardiovasc Diagnost Lab, Dept Pediat Cardiol, Houston, TX 77030 USA

[7] Hasbro Childrens Hosp, Dept Genet, Providence, RI USA

来源：

JOURNAL OF PERINATOLOGY | 2008年 / 28卷 / 04期

关键词：

fibrillin-1 ( FBN1); Marfan syndrome; neonate;

D O I：

10.1038/sj.jp.7211915

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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.

引用

页码：303 / 305

页数：3

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