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7. The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology. Shpargel KB; Mangini CL; Xie G; Ge K; Magnuson T Development; 2020 Jul; 147(21):. PubMed ID: 32541010 [TBL] [Abstract][Full Text] [Related]
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15. Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1. Gao CW; Lin W; Riddle RC; Chopra S; Kim J; Boukas L; Hansen KD; Björnsson HT; Fahrner JA PLoS Genet; 2024 Jun; 20(6):e1011310. PubMed ID: 38857303 [TBL] [Abstract][Full Text] [Related]
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17. Immunologic assessment and KMT2D mutation detection in Kabuki syndrome. Lin JL; Lee WI; Huang JL; Chen PK; Chan KC; Lo LJ; You YJ; Shih YF; Tseng TY; Wu MC Clin Genet; 2015 Sep; 88(3):255-60. PubMed ID: 25142838 [TBL] [Abstract][Full Text] [Related]
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20. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. Sobreira N; Brucato M; Zhang L; Ladd-Acosta C; Ongaco C; Romm J; Doheny KF; Mingroni-Netto RC; Bertola D; Kim CA; Perez AB; Melaragno MI; Valle D; Meloni VA; Bjornsson HT Eur J Hum Genet; 2017 Dec; 25(12):1335-1344. PubMed ID: 29255178 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]