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
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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A.
Enokizono T et al.
American Journal of Medical Genetics. Part A, 2017
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