Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants

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....

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Veröffentlicht in:	American journal of medical genetics. Part A 2021-09, Vol.185 (9), p.2829-2845
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Adolescent Bone lesions Child Child, Preschool Differential diagnosis embryonal rhabdomyosarcoma Epilepsy Female Humans Infant Infant, Newborn Kidney Neoplasms - genetics Kidney Neoplasms - pathology Lipomatosis Male MEK inhibitors mosaic KRAS Mosaicism Mutation nephroblastomatosis overgrowth Phenotype Phenotypes Polycystic kidney Proto-Oncogene Proteins p21(ras) - genetics Rhabdomyosarcoma Tumors vascular malformation Vascular Malformations - genetics Vascular Malformations - pathology Wilms tumor Wilms Tumor - genetics Wilms Tumor - pathology
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