Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Por um escritor misterioso
Last updated 22 março 2025


Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

KMT2A (Lysine Methyltransferase 2A)

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

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

The social phenotype associated with Wiedemann‐Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality - Ng - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library

Children, Free Full-Text

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome - Sheppard - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

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

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

PDF] KMT2A: Umbrella Gene for Multiple Diseases

Features of patients #95, #80, #103 and #173. Top left: features of pt

Otopalatodigital Syndrome, Type Ii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

The social phenotype associated with Wiedemann‐Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality - Ng - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library

Clinical and molecular spectrum of Wiedemann-Steiner syndrome, an emerging member of the chromatinopathy family

Genes, Free Full-Text
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