Article

Classic “PCH” genes are a rare cause of radiologic pontocerebellar hypoplasia

2023-01-11

Abstract excerpt

<h4>Background: </h4> The term Pontocerebellar Hypoplasia (PCH) was initially used to designate a heterogeneous group of fetal-onset genetic neurodegenerative disorders. As a descriptive term, PCH refers to pons and cerebellum of reduced volume. In addition to the classic PCH types, many other disorders can result in a similar imaging appearance. <h4>Objective: </h4> To review imaging, clinical and genetic featur...

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Literature Corpus work: 7f3c1cfa-c5b3-511e-97b9-756b0ed9a786
DOI: 10.21203/rs.3.rs-2431750/v1

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