The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene
Author:
Affiliation:
1. Department of Medical and Molecular GeneticsIndiana University School of Medicine Indianapolis Indiana
2. Section of Child Neurology, Department of NeurologyIndiana University School of Medicine Indianapolis Indiana
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.60698
Reference21 articles.
1. Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature
2. Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
3. Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
4. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes
5. A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis
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