Associated Papers
Clinical Characteristics of KMT2A Gene-Related Wiedemann-Steiner Syndrome and Progress in Recombinant Human Growth Hormone Therapy for Short-Stature Children.
Yue X et al.
Clinical Endocrinology, 2025
Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.
Wang M et al.
Bmc Pediatrics, 2025
40604511 (PubMed )
Supplement: 12887_2025_5751_MOESM3_ESM.xlsx › Sheet3
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T et al.
European Journal of Human Genetics : Ejhg, 2024
37872275 (PubMed )
Supplement: 41431_2023_1474_MOESM2_ESM.xlsx › Supp_table_1
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2.
Reynisdottir T et al.
Plos Genetics, 2022
35727845 (PubMed )
Supplement: pgen.1010278.s007.pdf
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome.
Luo S et al.
Molecular Genetics & Genomic Medicine, 2021
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.
Chan AJS et al.
Npj Genomic Medicine, 2019
31044088 (PubMed )
Supplement: 41525_2019_83_MOESM1_ESM.docx
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Baer S et al.
Clinical Genetics, 2018
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