例如:"lncRNA", "apoptosis", "WRKY"

Case 278: Mutation in ROBO3 Gene-Horizontal Gaze Palsy and Progressive Scoliosis.

Radiology. 2020 Jun;295(3):736-740. doi:10.1148/radiol.2020181238
Felipe Alba Scortegagna 1 , Felipe T Pacheco 1 , Renato Hoffmann Nunes 1 , Aline Serpa 1 , Michele Patricia Migliavacca 1 , Antonio José da Rocha 1
Felipe Alba Scortegagna 1 , Felipe T Pacheco 1 , Renato Hoffmann Nunes 1 , Aline Serpa 1 , Michele Patricia Migliavacca 1 , Antonio José da Rocha 1
+ et al

[No authors listed]

Author information
  • 1 From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.) and Genetics (M.P.M.), Diagnósticos da América SA, São Paulo, Brazil.

摘要


HistoryA 13-year-old girl was born to consanguineous parents. She presented with mild intellectual impairment, convergent strabismus, horizontal gaze palsy, and bilateral abducens palsy. Vertical gaze was preserved, and no abnormalities suggesting facial paralysis were noted. In addition, she reported progressive back pain since she was 5 years old. Other symptoms were denied. No medications or related drugs had been administered thus far. The patient underwent brain MRI for further evaluation. Current and previous spine radiographs were also reviewed.