COL4A1 Mutation in Preterm Intraventricular Hemorrhage

被引：60

作者：

Bilguvar, Kaya ^{[2
,3
]}

DiLuna, Michael L. ^{[2
,3
]}

Bizzarro, Matthew J. ^{[1
]}

Bayri, Yasar ^{[2
,3
]}

Schneider, Karen C. ^{[1
]}

Lifton, Richard P. ^{[4
,5
]}

Gunel, Murat ^{[2
,3
,6
]}

Ment, Laura R. ^{[1
,7
]}

机构：

[1] Yale Univ, Sch Med, Dept Pediat, New Haven, CT 06520 USA

[2] Yale Univ, Sch Med, Dept Neurosurg, New Haven, CT 06520 USA

[3] Yale Univ, Sch Med, Program Neurogenet, New Haven, CT 06520 USA

[4] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06520 USA

[5] Yale Univ, Sch Med, Howard Hughes Med Inst, New Haven, CT 06520 USA

[6] Yale Univ, Sch Med, Dept Neurobiol, New Haven, CT 06520 USA

[7] Yale Univ, Sch Med, Dept Neurol, New Haven, CT 06520 USA

来源：

JOURNAL OF PEDIATRICS | 2009年 / 155卷 / 05期

基金：

美国国家卫生研究院;

关键词：

COLLAGEN-IV; STABILITY;

D O I：

10.1016/j.jpeds.2009.04.014

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Intraventricular hemorrhage is a common complication of preterm infants. Mutations in the type IV procollagen gene, COL4A1, are associated with cerebral small vessel disease with hemorrhage in adults and fetuses. We report a rare variant in COL4A1 associated with intraventricular hemorrhage in dizygotic preterm twins. These results expand the spectrum of diseases attributable to mutations in type IV procollagens. (J Pediatr 2009; 155: 743-5).

引用

页码：743 / 745

页数：3

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