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Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
Le Rouzic MA, Fouquet C, Leblanc T, Touati M, Fouyssac F, Vermylen C, Jäkel N, Guichard JF, Maloum K, Toutain F, Lutz P, Perel Y, Manceau H, Kannengiesser C, Vannier JP. Le Rouzic MA, et al. Blood Cells Mol Dis. 2017 Jul;66:11-18. doi: 10.1016/j.bcmd.2017.07.003. Epub 2017 Jul 26. Blood Cells Mol Dis. 2017. PMID: 28772256
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Fouquet C, Le Rouzic MA, Leblanc T, Fouyssac F, Leverger G, Hessissen L, Marlin S, Bourrat E, Fahd M, Raffoux E, Vannier JP, Jäkel N, Knoefler R, Triolo V, Pasquet M, Bayart S, Thuret I, Lutz P, Vermylen C, Touati M, Rose C, Matthes T, Isidor B, Kannengiesser C, Ducassou S. Fouquet C, et al. Among authors: le rouzic ma. Br J Haematol. 2019 Nov;187(4):530-542. doi: 10.1111/bjh.16100. Epub 2019 Jul 23. Br J Haematol. 2019. PMID: 31338833 Free article.