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Pontocerebellar Hypoplasia Diagnosed on Autopsy: A Case Report

Pontocerebellar hypoplasia (PCH) is a diverse group of autosomal recessive genetic conditions presenting with hypoplastic changes in the brainstem, cerebellum, and spinal cord. It clinically manifests with neurological symptoms, respiratory failure, and often in a combination with other malformation...

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Detalles Bibliográficos
Autores principales: Stoyanov, George S, Lyutfi, Emran, Dzhenkov, Deyan L, Petkova, Lilyana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7301432/
https://www.ncbi.nlm.nih.gov/pubmed/32566419
http://dx.doi.org/10.7759/cureus.8178