Literature DB >> 25708516

Neonatal diabetes mellitus due to a novel mutation in the GATA6 gene accompanying renal dysfunction: a case report.

Hale Tuhan1, Gonul Catli, Ahmet Anik, Derya Özmen, Mehmet Atilla Türkmen, Ece Bober, Ayhan Abaci.   

Abstract

Entities:  

Keywords:  GATA6 gene; neonatal diabetes mellitus; renal dysfunction

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Year:  2015        PMID： 25708516     DOI： 10.1002/ajmg.a.36984

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA.

Authors:  Michelle L Miles; Natasha Cowan; Gavin Jackson
Journal:  AACE Clin Case Rep       Date:  2020-05-11

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

Authors:  Daphne Yau; Elisa De Franco; Sarah E Flanagan; Sian Ellard; Miriam Blumenkrantz; John J Mitchell
Journal:  Diagn Pathol       Date:  2017-01-03       Impact factor: 2.644

3.  Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities.

Authors:  Yang Timothy Du; Lynette Moore; Nicola K Poplawski; Sunita M C De Sousa
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2019-05-03
  3 in total

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