Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

The PIDDosome is a multiprotein complex, composed by the p53-induced death domain protein 1 (PIDD1), the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 that induces apoptosis in response to DNA damage. In the recent years, biallelic pathogenic variants in CRADD hav...

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Detalles Bibliográficos
Autores principales: Zaki, Maha S., Accogli, Andrea, Mirzaa, Ghayda, Rahman, Fatima, Mohammed, Hiba, Porras-Hurtado, Gloria Liliana, Efthymiou, Stephanie, Maqbool, Shazia, Shukla, Anju, Vincent, John B., Hussain, Abrar, Mir, Asif, Beetz, Christian, Leubauer, Anika, Houlden, Henry, Gleeson, Joseph G., Maroofian, Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385073/
https://www.ncbi.nlm.nih.gov/pubmed/34163010
http://dx.doi.org/10.1038/s41431-021-00910-0

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