Cargando…
Next‐generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus
BACKGROUND: Idiopathic infantile nystagmus (IIN) is a high genetically heterogeneous ophthalmic disease and is often associated with pathogenic mutations in FRMD7 and GPR143, respectively. Idiopathic infantile nystagmus manifests as involuntary periodic rhythmic oscillation of the eyes in the very e...
Autores principales: | Wang, Fengqi, Guan, Hongzai, Liu, Wenmiao, Zhao, Guiqiu, Liu, Shiguo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977136/ https://www.ncbi.nlm.nih.gov/pubmed/31495972 http://dx.doi.org/10.1002/jcla.23012 |
Ejemplares similares
-
The Role of FRMD7 in Idiopathic Infantile Nystagmus
por: Watkins, Rachel J., et al.
Publicado: (2012) -
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
por: Chen, Junjue, et al.
Publicado: (2019) -
A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus
por: Choi, Jae-Hwan, et al.
Publicado: (2015) -
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus
por: Li, Ningdong, et al.
Publicado: (2008) -
Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus
por: Hafdaoui, Sara, et al.
Publicado: (2023)