Pontocerebellar hypoplasia type 2: a neuropathological update

Pontocerebellar hypoplasia type 2 (PCH-2; MIM 277470), an autosomal recessive neurodegeneration with fetal onset, was studied in six autopsies with ages at death ranging between 1 and 22 years. Three patients were distantly related. A case of olivopontocerebellar hypoplasia (OPCH; MIM 225753) was st...

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Autori principali: Barth, Peter G., Aronica, Eleonora, de Vries, Linda, Nikkels, Peter G. J., Scheper, Wiep, Hoozemans, Jeroen J., Poll-The, Bwe - Tien, Troost, Dirk
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer-Verlag 2007
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Original Paper
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2039791/
https://ncbi.nlm.nih.gov/pubmed/17641900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-007-0263-0
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