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Update of the Genotype and Phenotype of KMT2D and KDM6A by Genetic Screening of 100 Patients with Clinically Suspected Kabuki Syndrome

Hiroaki Murakami,Yoshinori Tsurusaki,Keisuke Enomoto,Yukiko Kuroda,Takayuki Yokoi,Noritaka Furuya,Hiroshi Yoshihashi,Mari Minatogawa,Chihiro Abe-Hatano,Ikuko Ohashi,Naoto Nishimura,Tatsuro Kumaki,Yumi Enomoto,Takuya Naruto,Fuminori Iwasaki,Noriaki Harada,Aki Ishikawa,Hiroshi Kawame,Kiyoko Sameshima,Yu Yamaguchi,Masahisa Kobayashi,Makiko Tominaga,Satoshi Ishikiriyama,Toshiaki Tanaka,Hiroshi Suzumura,Shinsuke Ninomiya,Akane Kondo,Tadashi Kaname,Kenjiro Kosaki,Mitsuo Masuno,Yoshikazu Kuroki,Kenji Kurosawa

American Journal of Medical Genetics Part A（2020）

Cited 23|Views48
Key words
blended phenotype,deep splicing variant,Kabuki syndrome,malignancy,mosaicism
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