Article

Missense and nonsense mutations of the zebrafish <i>hcfc1a</i> gene result in contrasting mTor and radial glial phenotypes

2022-10-22

Abstract excerpt

Mutations in the HCFC1 transcriptional co-factor protein are the cause of cblX syndrome and X-linked intellectual disability (XLID). cblX is the more severe disorder associated with intractable epilepsy, abnormal cobalamin metabolism, facial dysmorphia, cortical gyral malformations, and intellectual disability. In vitro , Hcfc1 regulates neural precursor (NPCs) proliferation and number, which has been validate...

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Literature Corpus work: 90b7125b-8f65-5659-8b9a-f6a368c96cf4
DOI: 10.1101/2022.10.21.513292

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