Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations
about
Genome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biologyPathogenesis of the metabolic syndrome: insights from monogenic disordersMany faces of monogenic diabetesRfx6 maintains the functional identity of adult pancreatic β cells.Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.The Nexus of Stem Cell-Derived Beta-Cells and Genome Engineering.A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene.Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
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P2860
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations
description
im September 2011 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у вересні 2011
@uk
name
Clinical characterization of a ...... drome caused by RFX6 mutations
@en
Clinical characterization of a ...... drome caused by RFX6 mutations
@nl
type
label
Clinical characterization of a ...... drome caused by RFX6 mutations
@en
Clinical characterization of a ...... drome caused by RFX6 mutations
@nl
prefLabel
Clinical characterization of a ...... drome caused by RFX6 mutations
@en
Clinical characterization of a ...... drome caused by RFX6 mutations
@nl
P2093
P2860
P356
P1476
Clinical characterization of a ...... drome caused by RFX6 mutations
@en
P2093
Angus Dobbie
Corina Hartman
Liat de Vries
Ronen Spiegel
Stavit A. Shalev
P2860
P304
P356
10.1002/AJMG.A.34251
P407
P50
P577
2011-09-30T00:00:00Z