Publications by authors named "Enriqueta Hofmann"
Mol Genet Genomic Med
May 2019
Article Synopsis
- The study focused on postzygotic mutations in KRAS, HRAS, NRAS, and FGFR1 that cause mosaic RASopathies, leading to various eye, skin, heart, and brain developmental disorders.
- Six patients with different oculocutaneous syndromes were analyzed through biopsies and genetic sequencing to identify specific mutations linked to their conditions.
- Results revealed pathogenic mosaic mutations in the patients, particularly in KRAS and FGFR1, expanding the understanding of these rare genetic disorders.
