Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review

Pontocerebellar hypoplasia type 1B (PCH1B) is an autosomal recessive neurodegenerative disorder that involves hypoplasia or atrophy of the cerebellum and pons. PCH1B is caused by mutations in EXOSC3, which encodes a subunit of the RNA exosome complex. The most frequently observed mutation in PCH1B p...

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Detalles Bibliográficos
Autores principales: Szeto, Chun Ho, Rubin, Sarina, Sidlow, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10277028/
https://www.ncbi.nlm.nih.gov/pubmed/37337484
http://dx.doi.org/10.7759/cureus.39226

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10277028/
https://www.ncbi.nlm.nih.gov/pubmed/37337484
http://dx.doi.org/10.7759/cureus.39226

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