A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: A case report-Reference-Cited by-同舟云学术

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A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: A case report

Published:2013-09 Issue:4 Volume:39 Page:370-374
ISSN:1262-3636
Container-title:Diabetes & Metabolism
language:en
Short-container-title:Diabetes & Metabolism

Author:

Catli G.,Abaci A.,Flanagan S.E.,De Franco E.,Ellard S.,Hattersley A.,Guleryuz H.,Bober E.

Publisher

Elsevier BV

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference15 articles.

1. Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births;Slingerland;Diabetologia,2009

2. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood;Edghill;Diabetes,2008

3. Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene;Bennett;Pediatr Diabetes,2011

4. Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay;Balasubramanian;Am J Med Genet A,2010

5. Unusual case of neonatal diabetes mellitus due to congenital pancreas agenesis;Ashraf;Pediatr Diabetes,2005

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1. A New Variant in the <i>GATA6</i> Gene Associated with Tracheoesophageal Fistula, Pulmonary Vein Stenosis, and Neonatal Diabetes;Hormone Research in Paediatrics;2024-04-04

2. Not All Diabetic Ketoacidosis in Infant Is Type 1: A Case Report Permanent Neonatal Diabetes;AACE Clinical Case Reports;2024-01

3. Isolated Pancreatic Agenesis Secondary to PTF1A Gene Mutation: A Case Series and Literature Review;Cureus;2023-10-17

4. Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits;Molecular Biotechnology;2023-05-18

5. Genetic syndromes with diabetes: A systematic review;Obesity Reviews;2021-07-15

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