Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience

Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous neurodegenerative/neurodevelopmental disorder of the pons and cerebellum with onset in the prenatal period. Our study aimed to present different clinical and radiological manifestations of our genetically diagnosed PCH patients. Method: Si...

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Detalles Bibliográficos
Autores principales: Bilge, Serap, Mert, Gülen Gül, Hergüner, Özlem, Özcanyüz, Duygu, Bozdoğan, Sevcan Tuğ, Kaya, Ömer, Havalı, Cengiz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9461104/
https://www.ncbi.nlm.nih.gov/pubmed/36076253
http://dx.doi.org/10.1186/s13052-022-01349-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9461104/
https://www.ncbi.nlm.nih.gov/pubmed/36076253
http://dx.doi.org/10.1186/s13052-022-01349-9

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