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Startle Disease: An Overlooked Symptom of CTNNB1 -Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects.

Vincent BulotFrancis RamondFrançois MauguièreLaure Mazzola
Published in: Neurology. Genetics (2022)
study should be considered in patients with startle disease associated with intellectual deficiency.
Keyphrases
  • replacement therapy
  • patient reported