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
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
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
Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report.
Wang X et al.
Molecular Genetics & Genomic Medicine, 2021
Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.
Ramirez-Montaño D et al.
Colombia Medica (cali, Colombia), 2019
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
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.
Lebrun N et al.
European Journal of Human Genetics : Ejhg, 2018
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
Min Ko J et al.
Journal of Child Neurology, 2017
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.
Stellacci E et al.
American Journal of Medical Genetics. Part A, 2016
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
Miyake N et al.
Clinical Genetics, 2016
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