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1. Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutation.

Author

Raslan IR, França MC Jr, Oliveira JB, Schuurs-Hoeijmakers JHM, Pfundt R, Kok F, Barsottini OGP, and Pedroso JL

Subjects
Developmental Disabilities genetics, Gait genetics, Humans, Male, Medical Illustration, Middle Aged, Mutation, Syndrome, Ataxia congenital, Cerebellum abnormalities, Gait Disorders, Neurologic congenital, Inositol 1,4,5-Trisphosphate Receptors genetics, Nervous System Malformations genetics
Published
2021
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