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
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST2
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
Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review.
Kim MR et al.
Annals of Pediatric Endocrinology & Metabolism, 2023
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
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 2022
36212160 (PubMed )
Supplement: DataSheet2.xlsx › Table_S2
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
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
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
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