Publications by authors named "Daniel Lopez-Moreno"
Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus.
Oscar F Chacón-Camacho Acatzin Salgado-Medina Nayeli Alcaraz-Lares Daniel López-Moreno Tania Barragán-Arévalo
Gene
July 2019
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant entity characterized by eyelid malformations and caused by mutations in the forkhead box L2 (FOXL2) gene. Clinical and genetic analyses of large cohorts of BPES patients from different ethnic origins are important for a better characterization of FOXL2 mutational landscape. The purpose of this study is to describe the phenotypic features and the causal FOXL2 variants in a Mexican cohort of BPES patients.
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- 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.