Skip to Main Content

Paper Details

Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.
1
2023
BRAF, BRAF mutations, CFCS, Cardio-facio-cutaneous syndrome, IO overaction, IO) overaction, KRAS, MAP2K1, MAP2K2, MAPK, Pale, RAS, RASopathies, amblyopia, cardio-facio-cutaneous syndrome, ectodermal and cardiac anomalies, exotropia, genetic disorder, high refractive error, intellectual disability, musculoskeletal abnormalities, myopia, nystagmus, ocular abnormalities, ophthalmologic abnormalities, optic nerve pallor, pale optic nerve, patients, reduced postnatal growth, visual impairment
Author NameAffiliation
Marco TartagliaIRCCS
Giuseppe ZampinoCenter for Rare Diseases and Birth Defect, Fondazione Policlinico Universitario A. Gemelli, IRCCS
Giuseppe ZampinoUniversita Cattolica del Sacro Cuore
  • 1 - 3

Datasets

Release 1.2