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

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 co...

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Detalles Bibliográficos
Autores principales: Beyens, Aude, Dequeker, Laure, Brems, Hilde, Janssens, Sandra, Syryn, Hannes, D’Hooghe, Anne, De Paepe, Pascale, Vanwalleghem, Lieve, Stockman, Annelies, Vankwikelberge, Elena, De Schepper, Sofie, Goeteyn, Marleen, Delbeke, Patricia, Callewaert, Bert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8999796/
https://www.ncbi.nlm.nih.gov/pubmed/35409398
http://dx.doi.org/10.3390/ijms23074036

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