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.

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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: Artigo
Langue:Inglês
Publié: BlackWell Publishing Ltd 2013
Sujets:
Case Reports
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4184756/
https://ncbi.nlm.nih.gov/pubmed/25356219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.33
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