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Article

Generation and mutational analysis of a transgenic murine model of the human MAF mutation.

American journal of medical genetics. Part A - 1 Jul 2023

Fujino Mitsunori, Ojima Masami, Ishibashi Shun, Mizuno Seiya, Takahashi Satoru

Abstract excerpt

Aymé-Gripp syndrome is an autosomal dominant multisystem disorder. The major clinical features of this syndrome include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. MAF has been identified as a causative gene of the syndrome, and heterozygous variants owing to impairment in glycogen synthase kinase 3 (GSK3)-mediated MAF phosphorylation shows...

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Identifiers

PMID: 37186330
DOI: 10.1002/ajmg.a.63220

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