Severe infantile Marfan syndrome versus neonatal Marfan syndrome

被引：54

作者：

Hennekam, RCM

机构：

[1] Inst Child Hlth, Great Ormond St Hosp Children, Clin & Mol Genet Unit, London WC1N 1EH, England

[2] Univ Amsterdam, Acad Med Ctr, Dept Paediat, NL-1105 AZ Amsterdam, Netherlands

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 139A卷 / 01期

关键词：

D O I：

10.1002/ajmg.a.30979

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1 / 1

页数：1

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[4] Congenital diaphragmatic eventration and bilateral ureterohydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature [J].

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