Article
Severe Nerve Enlargement in SOS2-Related Noonan Syndrome.
American journal of medical genetics. Part A - 1 Oct 2025
Leenders Erika, Draaisma Fieke, Erasmus Corrie E, Coppens Catelijne, Kleimeier Lotte E R, Burgers Melanie, Rinne Tuula, Zenker Martin, Mazzanti Laura, Reintjes Wesley, van Alfen Nens, Draaisma Jos M T
Abstract excerpt
Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements were described in patients with a pathogenic variant in SOS2. To...
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