Novel Association of Dandy–Walker Malformation with CAPN15 Variants Expands the Phenotype of Oculogastrointestinal Neurodevelopmental Syndrome
American journal of medical genetics Part A（2023）
关键词
calpain,cerebellar dysgenesis,Dandy-Walker malformation,oculogastrointestinal neurodevelopmental syndrome,phenotype expansion,Purkinje cells
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