Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Por um escritor misterioso
Last updated 03 abril 2025


Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome

Frontiers Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

Frontiers Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. - Abstract - Europe PMC

Genes, Free Full-Text

Phenotypes of the patients. a Facial appearances of patients 1-14.

Frontiers Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome

Genes, Free Full-Text
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