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.

Detalles Bibliográficos
Autores principales: Eifes, Serge, Chudasama, Kishan K, Molnes, Janne, Wagner, Kerstin, Hoang, Tuyen, Schierloh, Ulrike, Rocour-Brumioul, Danielle, Johansson, Stefan, Njølstad, Pål R, de Beaufort, Carine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2013
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184756/
https://www.ncbi.nlm.nih.gov/pubmed/25356219
http://dx.doi.org/10.1002/ccr3.33
Descripción
Sumario: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.

Ejemplares similares