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
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author Eifes, Serge
Chudasama, Kishan K
Molnes, Janne
Wagner, Kerstin
Hoang, Tuyen
Schierloh, Ulrike
Rocour-Brumioul, Danielle
Johansson, Stefan
Njølstad, Pål R
de Beaufort, Carine
author_facet Eifes, Serge
Chudasama, Kishan K
Molnes, Janne
Wagner, Kerstin
Hoang, Tuyen
Schierloh, Ulrike
Rocour-Brumioul, Danielle
Johansson, Stefan
Njølstad, Pål R
de Beaufort, Carine
author_sort Eifes, Serge
collection PubMed
description 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.
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spelling pubmed-41847562014-10-29 A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes Eifes, Serge Chudasama, Kishan K Molnes, Janne Wagner, Kerstin Hoang, Tuyen Schierloh, Ulrike Rocour-Brumioul, Danielle Johansson, Stefan Njølstad, Pål R de Beaufort, Carine Clin Case Rep Case Reports 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. BlackWell Publishing Ltd 2013-12 2013-11-21 /pmc/articles/PMC4184756/ /pubmed/25356219 http://dx.doi.org/10.1002/ccr3.33 Text en © 2013 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Eifes, Serge
Chudasama, Kishan K
Molnes, Janne
Wagner, Kerstin
Hoang, Tuyen
Schierloh, Ulrike
Rocour-Brumioul, Danielle
Johansson, Stefan
Njølstad, Pål R
de Beaufort, Carine
A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes
title A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes
title_full A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes
title_fullStr A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes
title_full_unstemmed A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes
title_short A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes
title_sort novel gata6 mutation in a child with congenital heart malformation and neonatal diabetes
topic Case Reports
url 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
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