Article
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?
European journal of medical genetics - 1 Jan 2022
van der Werf-'t Lam A S, van Haeringen A, Rinnen T, Robles de Medina R M, Wilde A A M, Hennekam R C, Barge-Schaapveld D Q C M
Abstract excerpt
Andersen-Tawil syndrome (ATS) and Noonan syndrome (NS) are both autosomal dominantly inherited disorders that share anomalies in the same body systems, i.e. cardiovascular system, skeleton, growth, and face morphology. Here we report a patient meeting clinical diagnostic criteria for NS in whom no variant in one of the genes known to cause NS was found and a pathogenic variant in KCNJ2 (c.653G > C, p.(Arg218Pro))...
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