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
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
Delineation of clinical features in Wiedemann – Steiner syndrome caused by KMT 2 A mutations
Expanding the phenotype associated to KMT2A variants: overlapping clinical  signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Frontiers Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome
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
Expanding the phenotype associated to KMT2A variants: overlapping clinical  signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Frontiers Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome
Expanding the phenotype associated to KMT2A variants: overlapping clinical  signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Children, Free Full-Text
Expanding the phenotype associated to KMT2A variants: overlapping clinical  signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Genes, Free Full-Text
Expanding the phenotype associated to KMT2A variants: overlapping clinical  signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Genes, Free Full-Text
Expanding the phenotype associated to KMT2A variants: overlapping clinical  signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Phenotypes of the patients. a Facial appearances of patients 1-14.
Expanding the phenotype associated to KMT2A variants: overlapping clinical  signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants
Expanding the phenotype associated to KMT2A variants: overlapping clinical  signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Wiedemann-Steiner Syndrome With 2 Novel KMT 2 A Mutations : Variable Severity in Psychomotor Development and Musculoskeletal Manifestation
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
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
Expanding the phenotype associated to KMT2A variants: overlapping clinical  signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
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
Expanding the phenotype associated to KMT2A variants: overlapping clinical  signs between Wiedemann–Steiner and Rubinstein–Taybi 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

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