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

OBJECTIVE: To determine whether mutations reported for ZDHHC15 can cause mixed neurodevelopmental disorders, we performed both functional studies on variant pathogenicity and ZDHHC15 function in animal models. METHODS: We examined protein function of 4 identified variants in ZDHHC15 in a yeast compl...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Lewis, Sara A., Bakhtiari, Somayeh, Heim, Jennifer, Cornejo, Patricia, Liu, James, Huang, Aris, Musmacker, Andrew, Jin, Sheng Chih, Bilguvar, Kaya, Padilla-Lopez, Sergio R., Kruer, Michael C.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8323736/
https://ncbi.nlm.nih.gov/pubmed/34345675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000602
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