Pontocerebellar Hypoplasia, Type 1f (PCH1F)

脑桥小脑发育不全1F型(来自ICD-11)

别称:

Pch1f

Pontocerebellar Hypoplasia Type 1f

Pontocerebellar Hypoplasia 1f

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

PCH1F, also known as pontocerebellar hypoplasia type 1f, is a type of pontocerebellar hypoplasia that is related to PCH1C. The gene EXOSC1 (exosome component 1) is an important gene associated with PCH1F. The related pathways/superpathways include rRNA processing in the nucleus and cytosol and unfolded protein response (UPR). The affiliated tissues include the pons and brain, and the related phenotypes are hypotonia and global developmental delay.

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