Disease: Wiedemann Grosse Dibbern syndrome
- A case of Wiedemann-Steiner syndrome characterized by amenorrhoea, hypertrichosis, short stature, intellectual disability
- Analysis of gene variation and clinical characteristics of Wiedemann-Steiner syndrome
- Anxiety in Wiedemann-Steiner syndrome
- Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner Syndrome
- Clinical features and genetic analysis of a case of Wiedemann-Steiner syndrome due to variant of KMT2A gene
- Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <em>KMT2A</em>-Related Syndrome
- Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
- Feeding disorder in a patient with Wiedemann-Steiner syndrome
- Identification of a novel frameshift variant in the KMT2A gene of a child with Wiedemann-Steiner syndrome
- Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing
- Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
- Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation
- Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromes
- Severe Hip Dysplasia in Wiedemann-Steiner Syndrome Treated with Bilateral Bernese Periacetabular Osteotomy: A Case Report
- The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants
- The social phenotype associated with Wiedemann-Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality
- Unique profile of academic learning difficulties in Wiedemann-Steiner syndrome