Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Por um escritor misterioso
Last updated 28 maio 2024
Genes, Free Full-Text
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants - ScienceDirect
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report. - Abstract - Europe PMC
Delineation of clinical features in Wiedemann – Steiner syndrome caused by KMT 2 A mutations
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
Analysis of KMT2A mutations in Wiedemann-Steiner syndrome vs ID/DD
Children, Free Full-Text
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