Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia

Abstract excerpt

BACKGROUND: Pontocerebellar hypoplasia type 11 (PCH11) is an autosomal recessive disorder caused by variants in TBC1D23. The molecular basis for its clinical heterogeneity remains poorly understood. Here, we identified a novel TBC1D23 variant in a Chinese family, investigated its underlying pathogenic mechanisms, and systematically reviewed the clinical phenotypes of all reported cases of PCH11. RESULTS: We...

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