Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients

Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients

Neurological phenotypes such as intellectual disability occur in almost half of patients with neurofibromatosis 1 (NF1). Current genotype–phenotype studies have failed to reveal the mechanism underlying this clinical variability. Despite the presence of pathogenic variants of NF1, modifier genes lik...

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Bibliographic Details
Main Authors: Jie Tang, Niu Li, Guoqiang Li, Jian Wang, Tingting Yu, Ruen Yao
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Genes
Subjects:
NF1
rare variants
modifier gene
nervous system
genetic diagnosis
Online Access:https://www.mdpi.com/2073-4425/13/12/2218

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