Heterozygous Truncating Variant of TAOK1 in a Boy with Periventricular Nodular Heterotopia: a Case Report and Literature Review of TAOK1-related Neurodevelopmental Disorders
BMC Medical Genomics（2024）
关键词
TAOK1,Periventricular nodular heterotopia,PVNH,PNH,Neuronal migration disorders,Macrocephaly,Autism,ASD,Neurodevelopmental disorders
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