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
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.
Shao Z et al.
Genes, 2021
Unique retinal signaling defect in GNB5-related disease.
Shao Z et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 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
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