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A Novel Missense Heterozygous MACF1 Variant in a Patient with Global Developmental Delay, Lissencephaly and Drug-Resistant Epilepsy

Elena O. Belyaeva,Larisa I. Minaycheva, Vera M. Sivokha, Liudmila S. Kraeva, Natalya B. Torkhova,Maria E. Lopatkina,Elizaveta A. Fonova,Aleksei A. Zarubin,Nadezhda P. Babushkina,Igor N. Lebedev

Discover Medicine（2025）

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关键词
MACF1,Rare variant,Lissencephaly,Developmental delay,Epilepsy
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