Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA)

Homozygous and compound heterozygous mutations in GNB5 gene have been associated with a wide spectrum of clinical presentations, ranging from neurodevelopmental issues with or without cardiac arrhythmia (LADCI) to severe developmental delay with epileptic encephalopathy, retinal dystrophy, and heart...

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Detalles Bibliográficos
Autores principales: Sciacca, Francesca L., Ciaccio, Claudia, Fontana, Federica, Strano, Camilla, Gilardoni, Francesca, Pantaleoni, Chiara, D’Arrigo, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237723/
https://www.ncbi.nlm.nih.gov/pubmed/32477400
http://dx.doi.org/10.3389/fgene.2020.00399

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237723/
https://www.ncbi.nlm.nih.gov/pubmed/32477400
http://dx.doi.org/10.3389/fgene.2020.00399

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