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
Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.
Kaur A et al.
Journal of Pediatric Genetics, 2024
Elucidating the role of MLL1 nsSNPs: Structural and functional alterations and their contribution to leukemia development.
Al-Nakhle HH et al.
Plos One, 2024
Wiedemann-Steiner Syndrome: Case Report and Review of Literature.
Yu H et al.
Children (basel, Switzerland), 2022
36291481 (PubMed )
Supplement: children-09-01545-s001.zip › children-1912335-supplementary.pdf
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
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan A et al.
International Journal of Molecular Sciences, 2022
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
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.
Li N et al.
Orphanet Journal of Rare Diseases, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Baer S et al.
Clinical Genetics, 2018
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
Wenger AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Bramswig NC et al.
Human Genetics, 2015
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