Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
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PDF) Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Locations of ID/DD-associated KMT2A mutations. 22 mutations in affected
Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
Frontiers Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing – topic of research paper in Biological sciences. Download scholarly article
Analysis of KMT2A mutations in Wiedemann-Steiner syndrome vs ID/DD
KMT2A (Lysine Methyltransferase 2A)
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