Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus

BACKGROUND: Haploinsufficiency of the GATA6 transcription factor gene was recently found to be the most common cause of pancreatic agenesis, a rare cause of neonatal diabetes mellitus. Although most cases are de novo, we describe three siblings with inherited GATA6 haploinsufficiency and the rare fi...

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Detalles Bibliográficos
Autores principales: Yau, Daphne, De Franco, Elisa, Flanagan, Sarah E., Ellard, Sian, Blumenkrantz, Miriam, Mitchell, John J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209893/
https://www.ncbi.nlm.nih.gov/pubmed/28049534
http://dx.doi.org/10.1186/s13000-016-0592-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209893/
https://www.ncbi.nlm.nih.gov/pubmed/28049534
http://dx.doi.org/10.1186/s13000-016-0592-1

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