Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings-Reference-Cited by-同舟云学术

Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings

Published:2016-01-01 Issue:9 Volume:29 Page:
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:
Short-container-title:

Author:

Courtney Rachel,Gamble Candace,Arango Monica L.,Shah Avni,Rubio Nunilo I.,Nguyen Joanne,Rodriguez-Buritica David

Abstract

AbstractPermanent neonatal diabetes (PNDM) is a rare genetic condition characterized by hyperglycemia, insulinopenia, and failure to thrive beginning in the first 6 months of life. Recessive mutations in

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2016-0040/pdf

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4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Genet Med,2015

5. Mutations in the insulin gene can cause Mody and autoantibody-negative type 1 diabetes;Diabetes,2008

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2. Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience;Hormone Research in Paediatrics;2021-01-26

3. Neonatal diabetes due to homozygous INS gene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of life;Pediatric Diabetes;2020-08-07

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