Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review

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 ribonucleas...

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Detalles Bibliográficos
Autores principales: Dabaj, Ivana, Hassani, Adnan, Burglen, Lydie, Qebibo, Leila, Guerrot, Anne-Marie, Marret, Stéphane, Tebani, Abdellah, Bekri, Soumeya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9368788/
https://www.ncbi.nlm.nih.gov/pubmed/35893425
http://dx.doi.org/10.3390/jcm11154335

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9368788/
https://www.ncbi.nlm.nih.gov/pubmed/35893425
http://dx.doi.org/10.3390/jcm11154335

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