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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
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
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan A et al.
International Journal of Molecular Sciences, 2022
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4
Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.
Ramirez-Montaño D et al.
Colombia Medica (cali, Colombia), 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
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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