Publications by authors named "Fanny M Cortes"
Article Synopsis
- * Approximately 25% of those with these variants exhibited a Noonan-like phenotype, notably more than traditional NF1 patients (p < .0001), with p.Arg1276 and p.Lys1423 linked to serious cardiovascular issues.
- * The p.Met1149 variant presented a milder phenotype mainly with skin symptoms, affecting 0.4% of the UAB cohort, highlighting important genotype-phenotype correlations that can improve patient counseling and
