Hereditary changes in genes are often the cause of rare diseases. For example, disease-causing gene variants (PVs) in the HRAS gene cause Costello syndrome and PVs in the KRAS gene cause Noonan syndrome and cardio-facio-cutaneous syndrome. If such PVs only arise during embryonic development in the womb, those affected suffer from a mosaic disease in which both altered and healthy cells are present.
This article was originally published on MedicalXpress.com
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