Cargando…
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...
Autores principales: | , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8323736/ https://www.ncbi.nlm.nih.gov/pubmed/34345675 http://dx.doi.org/10.1212/NXG.0000000000000602 |