A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes.

Reference : A novel GATA6 mutation in a child with congenital heart malformation and neonatal dia...


	Document type :	Scientific journals : Article
	Discipline(s) :	Life sciences : Multidisciplinary, general & others
	To cite this reference:	http://hdl.handle.net/10993/26343

Title :	A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes.
Language :	English
Author, co-author :	Eifes, Serge [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) >]
	Chudasama, Kishan K. [> >]
	Molnes, Janne [> >]
	Wagner, Kerstin [> >]
	Hoang, Tuyen [> >]
	Schierloh, Ulrike [> >]
	Rocour-Brumioul, Danielle [> >]
	Johansson, Stefan [> >]
	Njolstad, Pal R. [> >]
	De Beaufort, Carine [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) >]
Publication date :	Dec-2013
Journal title :	Clinical Case Reports
Volume :	1
Issue/season :	2
Pages :	86-90
Peer reviewed :	Yes
e-ISSN :	2050-0904
Keywords :	[en] Exocrine pancreas dysfunction ; GATA6 ; heart malformation ; intrauterine growth retardation ; neonatal diabetes ; transcription factor mutation
Abstract :	[en] Diabetes in neonates is a monogenetic disease and genetic analysis is warranted to allow best treatment, prognosis, and genetic counseling. Transcription factor mutations may have a variable expression and different organs may be involved.
Permalink :	http://hdl.handle.net/10993/26343
DOI :	10.1002/ccr3.33

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Open access	Eifes_et_al-2013-Clinical_Case_Reports.pdf		Publisher postprint	193.33 kB	View/Open

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