GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes

被引：51

作者：

Bonnefond, A. ^{[1
,2
]}

Sand, O. ^{[1
,2
]}

Guerin, B. ^{[3
]}

Durand, E. ^{[1
,2
]}

De Graeve, F. ^{[1
,2
]}

Huyvaert, M. ^{[1
,2
]}

Rachdi, L. ^{[4
]}

Kerr-Conte, J. ^{[2
,5
]}

Pattou, F. ^{[2
,5
,6
]}

Vaxillaire, M. ^{[1
,2
]}

Polak, M. ^{[4
,7
]}

Scharfmann, R. ^{[4
]}

Czernichow, P. ^{[7
]}

Froguel, P. ^{[1
,2
,8
]}

机构：

[1] CNRS, Lille Inst Biol, UMR8199, F-59019 Lille, France

[2] Lille Nord France Univ, Lille, France

[3] Hosp Pau, Dept Paediat, Pau, France

[4] Paris Descartes Univ, Necker Hosp, INSERM, Res Ctr Growth & Signalling,U845, Paris, France

[5] INSERM, U859, F-59045 Lille, France

[6] Hosp Lille, Dept Endocrine Surg, Lille, France

[7] Necker Enfants Malad Hosp, Dept Paediat Endocrinol, Paris, France

[8] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, Dept Genom Common Dis, London, England

来源：

DIABETOLOGIA | 2012年 / 55卷 / 10期

基金：

英国医学研究理事会;

关键词：

Congenital heart disease; GATA6; Neonatal diabetes mellitus; Pancreatic agenesis; Whole-exome sequencing; ENDOCRINE;

D O I：

10.1007/s00125-012-2645-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：2845 / 2847

页数：3

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