A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy-Reference-Cited by-同舟云学术

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A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy

Published:2018-06 Issue:6 Volume:61 Page:312-314
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Sekiguchi Kazuhito,Itonaga Tomoyo,Maeda Tomoki,Fukami Maki,Yorifuji Tohru^ORCID,Ihara Kenji

Funder

Japan Agency for Medical Research and Development

National Center for Child Health and Development

Takeda foundation

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference24 articles.

1. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations;Aramaki;J. Pediatr.,2006

2. Functional insights into chromatin remodelling from studies on CHARGE syndrome;Basson;Trends Genet.,2015

3. Genetic syndromes caused by mutations in epigenetic genes;Berdasco;Hum. Genet.,2013

4. CHARGE association: an update and review for the primary pediatrician;Blake;Clin Pediatr (Phila).,1998

5. CHARGE and Kabuki syndromes: gene-specific DNA methylation signatures identify epigenetic mechanisms linking these clinically overlapping conditions;Butcher;Am. J. Hum. Genet.,2017

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Síndrome CHARGE en recién nacido con rearreglo de los cromosomas 15 y Y. Reporte de caso;Iatreia;2024

2. Syndromic forms of congenital hyperinsulinism;Frontiers in Endocrinology;2023-03-30

3. Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome;International Journal of Molecular Sciences;2022-09-29

4. CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia;Italian Journal of Pediatrics;2022-08-20

5. Syndromic Forms of Hyperinsulinaemic Hypoglycaemia—A 15‐year follow‐up Study;Clinical Endocrinology;2021-01-31

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