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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Bibliographic Details
Published in:Diagn Pathol
Main Authors: Yau, Daphne, De Franco, Elisa, Flanagan, Sarah E., Ellard, Sian, Blumenkrantz, Miriam, Mitchell, John J.
Format: Artigo
Language:Inglês
Published: BioMed Central 2017
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5209893/
https://ncbi.nlm.nih.gov/pubmed/28049534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13000-016-0592-1
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