Now showing items 1-4 of 4
Clinical findings and mutation analysis of NF1 patients in Turkey
(Elsevier B.V., 2018-02)
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that is caused by mutations of the NF1 gene. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant ...
The effect of parental age on NF1 patients in Turkey
(Springer Verlag, 2018-07-01)
Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, and its clinical presentations are highly variable. NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which ...
Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes
(Taylor and Francis Ltd, 2018-04-03)
Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder with autosomal-dominant inheritance, its clinical expression ...
NF1 Gene Mutations are the Major Molecular Event in Neurofibromatosis-Noonan Syndrome
(MedCrave Publishing, 2017-05)
Neurofibromatosis–Noonan syndrome is a rare autosomal dominant disorder which combines neurofibromatosis type 1 (NF1) features with Noonan syndrome. Noonan syndrome (NS) and the clinically overlapping disorders and ...