Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss

BACKGROUND AND OBJECTIVES: To report on the novel association of biallelic variant in atonal basic helix-loop-helix transcription factor 1 (ATOH1) gene and pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss in a family with 2 affected sibli...

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Detalles Bibliográficos
Autores principales: Višnjar, Tanja, Maver, Aleš, Writzl, Karin, Maloku, Ornela, Bergant, Gaber, Jaklič, Helena, Neubauer, David, Fogolari, Federico, Pečarič Meglič, Nuška, Peterlin, Borut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067583/
https://www.ncbi.nlm.nih.gov/pubmed/35518571
http://dx.doi.org/10.1212/NXG.0000000000000677

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067583/
https://www.ncbi.nlm.nih.gov/pubmed/35518571
http://dx.doi.org/10.1212/NXG.0000000000000677

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