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Clinical findings and mutational spectrum of neurofibromatosis type 1 patients in a single center of south part of Turkey
Author(s) -
Begümhan Demir Gündoğan,
Sevcan Tuğ Bozdoğan,
Yavuz Ayhan,
Cem Müjde,
Atıl Bişgin,
Elvan Çağlar Çıtak
Publication year - 2021
Publication title -
turkish journal of medical sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.277
H-Index - 27
eISSN - 1303-6165
pISSN - 1300-0144
DOI - 10.3906/sag-2101-401
Subject(s) - medicine , neurofibromatosis , germline mutation , glioma , gene mutation , mutation , neurofibromatosis type i , pathology , pons , genotype , family history , neurofibroma , single center , oncology , genetics , gene , cancer research , biology
The aim of this study is to determine the mutation spectrums and clinical characteristics of NF1 patients followed up in our center and to investigate whether there is a genotype-phenotype relationship.

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