Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)

被引：17

作者：

Romano, S. ^{[1
,2
]}

Bajolle, F. ^{[2
,3
]}

Valayannopoulos, V. ^{[1
,2
]}

Lyonnet, S. ^{[1
,2
]}

Colomb, V. ^{[1
]}

de Barace, C.

Vouhe, P. ^{[1
]}

Pouard, P. ^{[1
]}

Vuillaumier-Barrot, S. ^{[4
]}

Dupre, T. ^{[4
]}

de Keyzer, Y. ^{[2
]}

Sidi, D. ^{[2
,3
]}

Seta, N. ^{[2
,4
]}

Bonnet, D. ^{[2
,3
]}

de Lonlay, P. ^{[1
,2
]}

机构：

[1] Hop Necker Enfants Malad, Ctr Reference Malad Metab, AP HP, Dept Pediat,INSERM,U781, F-75743 Paris 15, France

[2] Univ Paris 05, Paris, France

[3] Hop Necker Enfants Malad, Serv Cardiol Pediat & Chirurg Cardiaque, F-75743 Paris 15, France

[4] Hop Bichat Claude Bernard, AP HP, F-75877 Paris 18, France

来源：

JOURNAL OF MEDICAL GENETICS | 2009年 / 46卷 / 04期

关键词：

N-CADHERIN; MUTATIONS;

D O I：

10.1136/jmg.2008.057620

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：287 / 288

页数：2

共 18 条

[1] A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases [J].

de Lonlay, P ;

Seta, N ;

Barrot, S ;

Chabrol, B ;

Drouin, V ;

Gabriel, BM ;

Journel, H ;

Kretz, M ;

Laurent, J ;

Le Merrer, M ;

Leroy, A ;

Pedespan, D ;

Sarda, P ;

Villeneuve, N ;

Schmitz, J ;

van Schaftingen, E ;

Matthijs, G ;

Jaeken, J ;

Korner, C ;

Munnich, A ;

Saudubray, JM ;

Cormier-Daire, V .

JOURNAL OF MEDICAL GENETICS, 2001, 38 (01) :14-19

[2]

Hutson Mary Redmond, 2003, Birth Defects Research, V69, P2, DOI 10.1002/bdrc.10002

[3] Targeted mutations in cell adhesion genes: What have we learned from them? [J].

Hynes, RO .

DEVELOPMENTAL BIOLOGY, 1996, 180 (02) :402-412

[4] THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - PRE-GOLGI AND GOLGI DISORDERS [J].

JAEKEN, J ;

CARCHON, H ;

STIBLER, H .

GLYCOBIOLOGY, 1993, 3 (05) :423-428

[5] N-cadherin is required for neural crest remodeling of the cardiac outflow tract [J].

Luo, Yang ;

High, Frances A. ;

Epstein, Jonathan A. ;

Radice, Glenn L. .

DEVELOPMENTAL BIOLOGY, 2006, 299 (02) :517-528

[6] Congenital heart disease and genetic syndromes: Specific correlation between cardiac phenotype and genotype [J].

Marino, B ;

Digilio, MC .

CARDIOVASCULAR PATHOLOGY, 2000, 9 (06) :303-315

[7] Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia [J].

Marquardt, T ;

Hülskamp, G ;

Gehrmann, J ;

Debus, V ;

Harms, E ;

Kehl, HG .

EUROPEAN JOURNAL OF PEDIATRICS, 2002, 161 (10) :524-527

[8]

Maschhoff KL, 2000, AM J MED GENET, V97, P280, DOI 10.1002/1096-8628(200024)97:4<280::AID-AJMG1278>3.0.CO

[9]

2-N

[10]

Matthijs G, 2000, HUM MUTAT, V16, P386, DOI 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO

← 1 2 →