Mosaic RASopathies concept: different skin lesions, same systemic manifestations?

Marie-Anne MorrenHeidi FodstadHilde BremsNicola BedoniEmmanuella GuenovaMartine Jacot-GuillarmodKanetee BusiahFabienne GiulianoMichel GillietIsis Atallah

Published in: Journal of medical genetics (2024)

pathogenic variants and may help improve their follow-up.

Keyphrases

copy number
soft tissue
wound healing
genome wide