Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

ConclusionOur study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations inKRASandFGFR1is a commonly involved mechanism in these rare oculocutaneous anomalies.

Source: Molecular Genetics & Genomic Medicine - March 18, 2019 Category: Genetics & Stem Cells Authors: Oscar F. Chacon ‐Camacho, Daniel Lopez‐Moreno, Martha A. Morales‐Sanchez, Enriqueta Hofmann, Michelle Pacheco‐Quito, Ilse Wieland, Vianney Cortes‐Gonzalez, Cristina Villanueva‐Mendoza, Martin Zenker, Juan Carlos Zenteno Tags: ORIGINAL ARTICLE Source Type: research