Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

BACKGROUND: Pathogenic variants of GNB5 encoding the β(5) subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularly severe bradycardia. METHODS: We used echocard...

Descripción completa

Detalles Bibliográficos
Autores principales: De Nittis, Pasquelena, Efthymiou, Stephanie, Sarre, Alexandre, Guex, Nicolas, Chrast, Jacqueline, Putoux, Audrey, Sultan, Tipu, Raza Alvi, Javeria, ur Rahman, Zia, Zafar, Faisal, Rana, Nuzhat, Rahman, Fatima, Anwar, Najwa, Maqbool, Shazia, Zaki, Maha S, Gleeson, Joseph G, Murphy, David, Galehdari, Hamid, Shariati, Gholamreza, Mazaheri, Neda, Sedaghat, Alireza, Lesca, Gaetan, Chatron, Nicolas, Salpietro, Vincenzo, Christoforou, Marilena, Houlden, Henry, Simonds, William F, Pedrazzini, Thierry, Maroofian, Reza, Reymond, Alexandre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Functional Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8639930/
https://www.ncbi.nlm.nih.gov/pubmed/33172956
http://dx.doi.org/10.1136/jmedgenet-2020-107015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8639930/
https://www.ncbi.nlm.nih.gov/pubmed/33172956
http://dx.doi.org/10.1136/jmedgenet-2020-107015

Ejemplares similares