Article

Biallelic null variants in<i>PNPLA8</i>cause microcephaly through the reduced abundance of basal radial glia

2023-04-29

Abstract excerpt

PNPLA8, one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. However, little is known about its role in brain development. Here, we report 12 individuals from 10 unrelated families with biallelic ultra-rare variants in PNPLA8 presenting with a wide spectrum of clinical features ranging from developmental and epile...

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Literature Corpus work: a136e567-5bc1-555b-a997-fe8ff1995504
DOI: 10.1101/2023.04.26.23288947

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Biallelic null variants in<i>PNPLA8</i>cause microcephaly through the reduced abundance of basal radial gliaDOI 10.1101/2023.04.26.23288947Read

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