The Spectrum of NF1 Gene Variations in Southeastern Turkey

• Κύριοι συγγραφείς: Emre Kırat (Συγγραφέας), Hatice Mutlu Albayrak (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Galenos Yayinevi, 2021-09-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

Aim:We aimed to expand the variant spectrum of the NF1 gene in Southeastern Turkey. Neurofibromatosis type 1 (NF1) disease is an inherited skin disorder with variable severity and heterogeneous systemic involvement. The pathogenic variations of the NF1 gene are responsible for the NF1 phenotype.Mate...