Genetic & Genomic MedicinemedRxivPreprint
Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia
Yuji Nakamura, Issei S. Shimada, Reza Maroofian…·Shinji Saitoh
This study identifies biallelic PNPLA8 variants causing microcephaly by reducing basal radial glia in cerebral organoids and disrupting phospholipid metabolism.
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