Associated Papers
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
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
Seaby EG et al.
Human Genetics, 2023
36477409 (PubMed )
Supplement: 439_2022_2509_MOESM2_ESM.xlsx › Sheet1
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
Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.
Ramirez-Montaño D et al.
Colombia Medica (cali, Colombia), 2019
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
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.
Dunkerton S et al.
American Journal of Medical Genetics. Part A, 2015
De novo mutations in MLL cause Wiedemann-Steiner syndrome.
Jones WD et al.
American Journal of Human Genetics, 2012
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