Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Por um escritor misterioso
Last updated 25 março 2025


Delineation of clinical features in Wiedemann – Steiner syndrome caused by KMT 2 A mutations

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

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

Children, Free Full-Text

Genes, Free Full-Text

Genes, Free Full-Text

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

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

Wiedemann-Steiner Syndrome With 2 Novel KMT 2 A Mutations : Variable Severity in Psychomotor Development and Musculoskeletal Manifestation

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

Locations of ID/DD-associated KMT2A mutations. 22 mutations in affected

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing, BMC Medical Genetics

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
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