Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

The X‐linked PTCHD1 gene, encoding a synaptic membrane protein, has been involved in neurodevelopmental disorders with the description of deleterious genomic microdeletions or truncating coding mutations. Missense variants were also identified, however, without any functional evidence supporting the...

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Detalles Bibliográficos
Autores principales: Halewa, Judith, Marouillat, Sylviane, Dixneuf, Manon, Thépault, Rose‐Anne, Ung, Dévina C., Chatron, Nicolas, Gérard, Bénédicte, Ghoumid, Jamal, Lesca, Gaëtan, Till, Marianne, Smol, Thomas, Couque, Nathalie, Ruaud, Lyse, Chune, Valérie, Grotto, Sarah, Verloes, Alain, Vuillaume, Marie‐Laure, Toutain, Annick, Raynaud, Martine, Laumonnier, Frédéric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8359977/
https://www.ncbi.nlm.nih.gov/pubmed/33856728
http://dx.doi.org/10.1002/humu.24208

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8359977/
https://www.ncbi.nlm.nih.gov/pubmed/33856728
http://dx.doi.org/10.1002/humu.24208

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