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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2020
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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 |