Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review
Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Pontocerebellar hypoplasia (PCH) is an autosomal recessive, neurodegenerative disorder with multiple subtypes leading to severe neurodevelopmental disabilities. PCH type 1 D is linked to alterations in the EXOSC9 gene. EXOSC9 is a component of the RNA exosome, an evolutionarily conserved ribonuclease complex essential for RNA degradation and proces...
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Full title
Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9368788
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9368788
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ISSN
2077-0383
E-ISSN
2077-0383
DOI
10.3390/jcm11154335
