Article
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.
American journal of medical genetics. Part A - 1 Sept 2021
Chang Caitlin A, Perrier Renee, Kurek Kyle C, Estrada-Veras Juvianee, Lehman Anna, Yip Stephen, Hendson Glenda, Diamond Carol, Pinchot Jason W, Tran Jennifer M, Arkin Lisa M, Drolet Beth A, Napier Melanie P, O'Neill Sarah A, Balci Tugce B, Keppler-Noreuil Kim M
Abstract excerpt
Mosaic KRAS variants and other RASopathy genes cause oculoectodermal, encephalo-cranio-cutaneous lipomatosis, and Schimmelpenning-Feuerstein-Mims syndromes, and a spectrum of vascular malformations, overgrowth and other associated anomalies, the latter of which are only recently being characterized. We describe eight individuals in total (six unreported cases and two previously reported cases) with somatic KRAS...
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