IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s10038-020-0742-x.pdf
Reference12 articles.
1. Petrovski S, Kury S, Myers CT, Anyane-Yeboa K, Cogne B, Bialer M, et al. Germline De Novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures. Am J Hum Genet. 2016;98:1001–10.
2. den Hoed M, Eijgelsheim M, Esko T, Brundel BJ, Peal DS, Evans DM, et al. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet. 2013;45:621–31.
3. Nakao R, Tanaka H, Takitani K, Kajiura M, Okamoto N, Kanbara Y, et al. GNB3 C825T polymorphism is associated with postural tachycardia syndrome in children. Pediatrics Int Off J Jpn Pediatr Soc. 2012;54:829–37.
4. Smolock EM, Ilyushkina IA, Ghazalpour A, Gerloff J, Murashev AN, Lusis AJ, et al. Genetic locus on mouse chromosome 7 controls elevated heart rate. Physiol Genom. 2012;44:689–98.
5. Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, et al. GNB5 mutations cause an autosomal-recessive multisystem syndrome with sinus bradycardia and cognitive disability. Am J Hum Genet. 2016;99:704–10.
Cited by 3 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
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