Article (Scientific journals)
A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes.
EIFES, Serge; Chudasama, Kishan K.; Molnes, Janne et al.
2013In Clinical Case Reports, 1 (2), p. 86-90
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Keywords :
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.
Disciplines :
Life sciences: Multidisciplinary, general & others
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)
External co-authors :
yes
Language :
English
Title :
A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes.
Publication date :
December 2013
Journal title :
Clinical Case Reports
ISSN :
2050-0904
Publisher :
Wiley-Blackwell, Hoboken, United Kingdom
Volume :
1
Issue :
2
Pages :
86-90
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBilu :
since 30 March 2016

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