Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report

CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063
Source: Annals of Agricultural and Environmental Medicine : AAEM - Category: Environmental Health Authors: Source Type: research