A Rare Case of Lhermitte Duclos Disease Associated with Somatic PTEN and Germline SUFU Variants

Özge Güngör, Aslı Ece Solmaz, Emin Karaca, Taner Akalın, Elif Bolat et al.

PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson’s disease to perinatal lethality by disrupting mitochondrial pathways

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