Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome
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Here we report a case of a Japanese girl with Wiedemann-Steiner syndrome carrying a novel heterozygous frameshift variant of KMT2A (NM_001197104.2:c.10123del, p.Thr3375ProfsTer7). Her clinical features included severe pre- and postnatal growth failure, global ... ...
