Associated Papers
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
De Nittis P et al.
Journal of Medical Genetics, 2021
33172956 (PubMed )
Supplement: jmedgenet-2020-107015supp004.pdf
[Intellectual disorder and idiopathic sick sinus syndrome associated with GNB5 mutation: a case report].
Ou ZH et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2021
[Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review].
Mai JH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020
Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA).
Sciacca FL et al.
Frontiers in Genetics, 2020
Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.
Malerba N et al.
Stem Cell Research, 2019
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