TY - JOUR AU - Chen, Junjue AU - Wei, Yan AU - Tian, Linlu AU - Kang, Xiaoli PY - 2019 DA - 2019/01/07 TI - A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family JO - BMC Medical Genetics SP - 5 VL - 20 IS - 1 AB - 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. SN - 1471-2350 UR - https://doi.org/10.1186/s12881-018-0720-8 DO - 10.1186/s12881-018-0720-8 ID - Chen2019 ER -