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A literature research based on reported cases of MVA and premature chromatid separation was also included. Karyotyping has revealed 12% of mosaics in the patient who carries a novel variant in BUB1B gene (c.2679A T, p.Arg893Ser) detected by WES. Thirty-one cases of MVA1 including the present report, and four prenatally diagnosed cases with MVA1 were selected and inspected. Clinical and genetic findings reported in the girl strongly suggest a new MVA1 genotype-phenotype correlation and lead to a reappraisal of a severe syndrome. Diag
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