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2. Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome. Pilarowski GO; Cazares T; Zhang L; Benjamin JS; Liu K; Jagannathan S; Mousa N; Kasten J; Barski A; Lindsley AW; Bjornsson HT J Allergy Clin Immunol; 2020 Mar; 145(3):982-992. PubMed ID: 31816409 [TBL] [Abstract][Full Text] [Related]
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4. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Van Laarhoven PM; Neitzel LR; Quintana AM; Geiger EA; Zackai EH; Clouthier DE; Artinger KB; Ming JE; Shaikh TH Hum Mol Genet; 2015 Aug; 24(15):4443-53. PubMed ID: 25972376 [TBL] [Abstract][Full Text] [Related]
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11. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Micale L; Augello B; Maffeo C; Selicorni A; Zucchetti F; Fusco C; De Nittis P; Pellico MT; Mandriani B; Fischetto R; Boccone L; Silengo M; Biamino E; Perria C; Sotgiu S; Serra G; Lapi E; Neri M; Ferlini A; Cavaliere ML; Chiurazzi P; Monica MD; Scarano G; Faravelli F; Ferrari P; Mazzanti L; Pilotta A; Patricelli MG; Bedeschi MF; Benedicenti F; Prontera P; Toschi B; Salviati L; Melis D; Di Battista E; Vancini A; Garavelli L; Zelante L; Merla G Hum Mutat; 2014 Jul; 35(7):841-50. PubMed ID: 24633898 [TBL] [Abstract][Full Text] [Related]
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