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A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant.
Ohashi T, Kunimoto H, Nukui J, Teshigawara H, Koyama S, Miyazaki T, Hagihara M, Matsumoto K, Koshimizu E, Tsuchida N, Hamanoue H, Miyatake S, Yachie A, Matsumoto N, Nakajima H. Ohashi T, et al. Among authors: tsuchida n. Int J Hematol. 2024 May;119(5):603-607. doi: 10.1007/s12185-024-03751-x. Epub 2024 Mar 15. Int J Hematol. 2024. PMID: 38489090
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
Inoue Y, Tsuchida N, Kim CA, de Oliveira Stephan B, Castro MAA, Honjo RS, Bertola DR, Uchiyama Y, Hamanaka K, Fujita A, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Matsumoto N. Inoue Y, et al. Among authors: tsuchida n. J Hum Genet. 2024 Apr;69(3-4):163-167. doi: 10.1038/s10038-024-01219-8. Epub 2024 Jan 17. J Hum Genet. 2024. PMID: 38228874
262 results