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Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.
Eom TY, Schmitt JE, Li Y, Davenport CM, Steinberg J, Bonnan A, Alam S, Ryu YS, Paul L, Hansen BS, Khairy K, Pelletier S, Pruett-Miller SM, Roalf DR, Gur RE, Emanuel BS, McDonald-McGinn DM, Smith JN, Li C, Christie JM, Northcott PA, Zakharenko SS. Eom TY, et al. Nat Commun. 2024 Dec 5;15(1):10510. doi: 10.1038/s41467-024-54837-3. Nat Commun. 2024. PMID: 39638997 Free PMC article.