A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

Volume: 20, Issue: 1
Published: Jan 7, 2019
Abstract
Infantile nystagmus (IN) is an oculomotor disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infantile nystagmus.We conducted comprehensive ocular examinations and collected 5 ml...
Paper Details
Title
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
Published Date
Jan 7, 2019
Volume
20
Issue
1
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