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Article

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

Human mutation - 1 Dec 2022

Janssen Beau D E, van den Boogaard Marie-Jose H, Lichtenbelt Klaske, Seaby Eleanor G, Stals Karen, Ellard Sian, Newbury-Ecob Ruth, Dixit Abhijit, Roht Laura, Pajusalu Sander, Õunap Katrin, Firth Helen V, Buckley Michael, Wilson Meredith, Roscioli Tony, Tidwell Timothy, Mao Rong, Ennis Sarah, Holwerda Sjoerd J, van Gassen Koen, van Jaarsveld Richard H

Abstract excerpt

TATA-binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated previously as monogenic disease genes in human developmental disorders. TAF4 has not been described to date as a monogenic disease gene. We here present a cohort of eight individuals, each carrying...

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PMID: 35904126
DOI: 10.1002/humu.24444
PMCID: PMC10087332

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