Next generation sequencing identified a novel multi exon deletion of the NF1 gene in a Chinese pedigree with neurofibromatosis type 1
Neurofibromatosis type 1 (NF1) is a genetic disease involving neurocutaneous abnormalities. Neurofibromatosis type 1 is an autosomal dominant disorder characterized by the neurofibromas and café-au-lait spots. Mutation in the NF 1 gene causes NF1. The NF 1 gene encodes neurofibromin. In this study,...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Sciendo
2018-12-01
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Series: | Balkan Journal of Medical Genetics |
Subjects: | |
Online Access: | https://doi.org/10.2478/bjmg-2018-0019 |