Büki, Gergely; Bekő, Anna; Bödör, Csaba; Urbán, Péter; Németh, Krisztina; Hadzsiev, Kinga; Fekete, György; Kehrer-Sawatzki, Hildegard; Bene, Judit
(2023)
Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous disorder inherited in autosomal dominant manner. Approximately 5–10% of the cases are caused by NF1 microdeletions involving the NF1 gene and its ...