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

Key Clinical Message 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. Diabetes in neonates is a monogenetic d...

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Bibliographic Details
Published in:Clinical case reports 2013-12, Vol.1 (2), p.86-90
Main Authors: Eifes, Serge, Chudasama, Kishan K., Molnes, Janne, Wagner, Kerstin, Hoang, Tuyen, Schierloh, Ulrike, Rocour‐Brumioul, Danielle, Johansson, Stefan, Njølstad, Pål R., Beaufort, Carine
Format: Article
Language:English
Subjects:
Case Reports
Exocrine pancreas dysfunction
GATA6
heart malformation
intrauterine growth retardation
neonatal diabetes
transcription factor mutation
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Summary:Key Clinical Message 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. 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.33