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...

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Detalles Bibliográficos
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:
Research Articles
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

Internet

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

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