Novel bi-allelic variants of CHMP1A contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence

Pontocerebellar hypoplasia type 8(PCH8) is a rare neurodegenerative disorder, reportedly caused by pathogenic variants of the CHMP1A in autosomal recessive inheritance, and CHMP1A variants have also been implicated in other diseases, and yet none of the prenatal fetal features were reported in PCH8....

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Detalles Bibliográficos
Autores principales: He, Tiantian, Sun, Huaqin, Xu, Bocheng, Qu, Haibo, Cai, Xiaotang, Zhou, Hui, Liu, Yanyan, Lin, Ziyuan, Zhang, Xuemei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10544971/
https://www.ncbi.nlm.nih.gov/pubmed/37789895
http://dx.doi.org/10.3389/fneur.2023.1228218

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10544971/
https://www.ncbi.nlm.nih.gov/pubmed/37789895
http://dx.doi.org/10.3389/fneur.2023.1228218

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