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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.
Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K. Murakami H, et al. Am J Med Genet A. 2020 Oct;182(10):2333-2344. doi: 10.1002/ajmg.a.61793. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32803813
Discordant phenotype caused by CASK mutation in siblings with NF1.
Murakami H, Kimura Y, Enomoto Y, Tsurusaki Y, Akahira-Azuma M, Kuroda Y, Tsuji M, Goto T, Kurosawa K. Murakami H, et al. Hum Genome Var. 2019 Apr 26;6:20. doi: 10.1038/s41439-019-0051-0. eCollection 2019. Hum Genome Var. 2019. PMID: 31044082 Free PMC article.
Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome.
Takizaki N, Tsurusaki Y, Katsumata K, Enomoto Y, Murakami H, Muroya K, Ishikawa H, Aida N, Nishimura G, Kurosawa K. Takizaki N, et al. Among authors: murakami h. Hum Genome Var. 2020 Feb 4;7:1. doi: 10.1038/s41439-020-0090-6. eCollection 2020. Hum Genome Var. 2020. PMID: 32047638 Free PMC article.
3,280 results