Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants-Reference-Cited by-同舟云学术

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Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants

Published:2018-01-25 Issue:6 Volume:93 Page:1254-1256
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Vernon H.¹,Cohen J.¹,De Nittis P.²,Fatemi A.¹,McClellan R.¹,Goldstein A.³,Malerba N.⁴,Guex N.²⁵,Reymond A.²,Merla G.⁴^ORCID

Affiliation:

1. Department of Neurogenetics; Kennedy Krieger Institute; Baltimore Maryland

2. Center for Integrative Genomics; University of Lausanne; Lausanne Switzerland

3. Division of Human Genetics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

4. Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza; San Giovanni Rotondo Foggia, Italy

5. Swiss Institute of Bioinformatics; Lausanne Switzerland

Funder

Italian Ministry of Health

Daunia Plast

Stuppiello's Family

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13194/fullpdf

Reference3 articles.

1. GNB5 mutations cause an autosomal-recessive multisystem syndrome with sinus bradycardia and cognitive disability;Lodder;Am J Hum Genet,2016

2. Familial early infantile epileptic encephalopathy and cardiac conduction disorder: a rare cause of SUDEP in infancy;Turkdogan;Seizure,2017

3. GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition;Shamseldin;Genome Biol,2016

Cited by 11 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. Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes;Genes;2021-08-29

2. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome;Journal of Medical Genetics;2020-11-10

3. Clinical Utility of Next-Generation Sequencing for Developmental Disorders in the Rehabilitation Department: Experiences from a Single Chinese Center;Journal of Molecular Neuroscience;2020-09-21

4. Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome;Molecular Genetics and Metabolism Reports;2020-06

5. Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA);Frontiers in Genetics;2020-05-13

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