Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study

Veres, K. ✉ [Veres, Klára (Bőrgyógyászat), author] Semmelweis University; Nagy, B.; Ember, Z.; Bene, J. [Bene, Judit (Klinikai genetika), author] Department of Medical Genetics (UP / UPMS); Hadzsiev, K. [Hadzsiev, Kinga (Genetika), author] Department of Medical Genetics (UP / UPMS); Medvecz, M. [Medvecz, Márta (Bőrgyógyászat), author] Department of Dermatology, Dermatooncology and ... (SU / FM / C); Szabó, L. [Szabó, László (Gyermekgyógyászat), author] Department of Family Care Methodology (SU / FHS); Szalai, Z.Z.