Article
Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.
American journal of medical genetics. Part A - 1 Nov 2024
Draaisma Fieke, Leenders Erika K S M, Erasmus Corrie E, Braakman Hilde M H, Burgers Melanie C J, Coppens Catelijne H, Rinne Tuula, Zenker Martin, Tartaglia Marco, Reintjes Wesley, Voermans Nicol C, van Engelen Baziel G M, van Alfen Nens, Draaisma Jos M T
Abstract excerpt
Noonan syndrome (NS) is an autosomal dominant condition characterized by facial dysmorphism, congenital heart disease, development delay, growth retardation and lymphatic disease. It is caused by germline pathogenic variants in genes encoding proteins in the Ras/mitogen-activated protein kinase signaling pathway. Nerve enlargement is not generally considered as a feature of NS, although some cases have been...
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