Articles with "146 kras" as a keyword



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Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23074036

Abstract: Mosaic RASopathies are a molecularly heterogeneous group of (neuro)cutaneous syndromes with high phenotypical variability. Postzygotic variants in KRAS have been described in oculoectodermal syndrome (OES), encephalocraniocutaneous lipomatosis (ECCL) and epidermal nevus syndrome (ENS). This study… read more here.

Keywords: kras variants; epidermal nevus; isolated epidermal; mosaic rasopathies ... See more keywords