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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Detalles Bibliográficos
Autores principales: Tang, Jie, Li, Niu, Li, Guoqiang, Wang, Jian, Yu, Tingting, Yao, Ruen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778305/
https://www.ncbi.nlm.nih.gov/pubmed/36553485
http://dx.doi.org/10.3390/genes13122218

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778305/
https://www.ncbi.nlm.nih.gov/pubmed/36553485
http://dx.doi.org/10.3390/genes13122218

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