Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype.
Claudia SantoroRosa BocciaClaudio IovinoGiulio PilusoSilverio PerrottaFrancesca SimonelliPublished in: European journal of human genetics : EJHG (2022)