Pancreatic agenesis and congenital heart disease

Definition:

Pancreatic agenesis and congenital heart disease is a rare autosomal dominant disorder characterized by neonatal diabetes with pancreatic hypoplasia and congenital heart disease. Mutations in GATA6 have been linked to this disease. GATA6 is expressed during the embryogenesis of a variety of endodermally derived organs, including the heart, pancreas, ovary, lung, and liver.

References:

[1]. Hana Lango Allen, et al. GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet. 2011 Dec 11;44(1):20-22. [Content Brief]

[2]. Tohru Yorifuji, et al. Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation. J Med Genet. 2012 Oct;49(10):642-3. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.