Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes
Abstract 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 …
worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder …
Clinical findings and mutation analysis of NF1 patients in Turkey
Abstract 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 …
mutations of the NF1 gene. NF1 is clinically characterized by neurofibromas, pigmentation …
Neurofibromatosis 1-Noonan syndrome associated with pulmonary stenosis and hypertrophic cardiomyopathy
DN Radu, M Dobrovie, R Capsa… - Romanian Journal of …, 2021 - sciendo.com
Neurofibromatosis 1-Noonan syndrome is considered a distinct clinical entity, combining
characteristics of both autosomal dominant disorders: neurofibromatosis 1 and Noonan …
characteristics of both autosomal dominant disorders: neurofibromatosis 1 and Noonan …
Genetic Analysis of Selected Neurofibromatoses Cases in Saudi Arabia
N Alfuraih - 2022 - search.proquest.com
1. BACKGROUND: Neurofibromatoses (NFMT) are a group of hereditary conditions that
include three genetically distinct disorders: Neurofibromatosis 1 (NFM1), Neurofibromatosis …
include three genetically distinct disorders: Neurofibromatosis 1 (NFM1), Neurofibromatosis …