ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

BACKGROUND: Pathogenic variants in the ATAD3A gene lead to a heterogenous clinical picture and severity ranging from recessive neonatal-lethal pontocerebellar hypoplasia through milder dominant Harel-Yoon syndrome up to, again, neonatal-lethal but dominant cardiomyopathy. The genetic diagnostics of...

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Detalles Bibliográficos
Autores principales: Skopkova, Martina, Stufkova, Hana, Rambani, Vibhuti, Stranecky, Viktor, Brennerova, Katarina, Kolnikova, Miriam, Pietrzykova, Michaela, Karhanek, Miloslav, Noskova, Lenka, Tesarova, Marketa, Hansikova, Hana, Gasperikova, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10127305/
https://www.ncbi.nlm.nih.gov/pubmed/37095554
http://dx.doi.org/10.1186/s13023-023-02689-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10127305/
https://www.ncbi.nlm.nih.gov/pubmed/37095554
http://dx.doi.org/10.1186/s13023-023-02689-3

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