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Journal Abstract Search

378 related items for PubMed ID: 29914387

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  • 26. Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
    Cheon CK, Sohn YB, Ko JM, Lee YJ, Song JS, Moon JW, Yang BK, Ha IS, Bae EJ, Jin HS, Jeong SY.
    J Hum Genet; 2014 Jun; 59(6):321-5. PubMed ID: 24739679
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  • 27. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
    Luperchio TR, Applegate CD, Bodamer O, Bjornsson HT.
    Mol Genet Genomic Med; 2020 Feb; 8(2):e1072. PubMed ID: 31814321
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  • 39. Prenatal and perinatal history in Kabuki Syndrome.
    Rosenberg CE, Daly T, Hung C, Hsueh I, Lindsley AW, Bodamer O.
    Am J Med Genet A; 2020 Jan; 182(1):85-92. PubMed ID: 31654559
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