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Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability.

Sara A LewisSomayeh BakhtiariJennifer HeimPatricia CornejoJames LiuAris HuangAndrew MusmackerSheng Chih JinKaya BilguvarSergio R Padilla-LopezMichael C Kruer
Published in: Neurology. Genetics (2021)
Our findings support a functional expansion of this gene to a role in motor dysfunction. Although ZDHHC15 mutations represent a rare cause of neurodevelopmental disability, candidate variants need to be carefully assessed before pathogenicity can be determined.
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