Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.
Oscar F Chacon-CamachoDaniel Lopez-MorenoMartha A Morales-SanchezEnriqueta HofmannMichelle Pacheco-QuitoIlse WielandVianney Cortes-GonzalezCristina Villanueva-MendozaMartin ZenkerJuan Carlos Zenteno RuizPublished in: Molecular genetics & genomic medicine (2019)
Our study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations in KRAS and FGFR1 is a commonly involved mechanism in these rare oculocutaneous anomalies.
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