A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes.
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ABSTRACT:
SUBMITTER: Eifes S
PROVIDER: S-EPMC4184756 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
Publications
A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes.
Eifes Serge S Chudasama Kishan K KK Molnes Janne J Wagner Kerstin K Hoang Tuyen T Schierloh Ulrike U Rocour-Brumioul Danielle D Johansson Stefan S Njølstad Pål R PR de Beaufort Carine C
Clinical case reports 20131121 2
<h4>Key clinical message</h4>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. ...[more]
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