A novel GATA 6 mutation in a child with congenital heart malformation and neonatal diabetes

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.

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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., de Beaufort, Carine
Format: Article
Language:English
Subjects:
Age
Case reports
Children & youth
Defects
Diabetes
Enzymes
Families & family life
Genes
Genetic counseling
Heart
Hyperglycemia
Insulin
Metabolism
Mutation
Pancreas
Parents & parenting
Studies
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Description
Summary: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