Výsledky vyhledávání - "Elena Vankwikelberge"

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

Autor: Aude Beyens, Laure Dequeker, Hilde Brems, Sandra Janssens, Hannes Syryn, Anne D’Hooghe, Pascale De Paepe, Lieve Vanwalleghem, Annelies Stockman, Elena Vankwikelberge, Sofie De Schepper, Marleen Goeteyn, Patricia Delbeke, Bert Callewaert

Publikováno v: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::001f854043dd77e13b9b382f82db2b09
https://doi.org/10.3390/ijms23074036

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání