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Cerebral palsy needs a review: a novel DDX3X mutation in a family
[post]
2019
unpublished
Preserved Fulltext
Cerebral palsy (CP) is a non-progressive disorder of movement and posture due to a static insult to the brain. Some conditions of other disorders can mimic CP, and thus CP needs to be pursued for its underlying cause. In this paper, we reported a novel DDX3X mutation in a girl afflicted with MRX102 which had been confused with CP in her early life. The application of whole exome sequencing may be the best method to distinguish between actual CP and other disorders with similar characteristics.
doi:10.21203/rs.2.18259/v1
fatcat:wmrycxiuebfdxaxu5q4jxdt4um