Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome

Neurodevelopmental disorders, including autism spectrum disorder, have complex polygenic etiologies. Single-gene mutations in patients can help define genetic factors and molecular mechanisms underlying neurodevelopmental disorders. Here we describe individuals with monogenic heterozygous microdelet...

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Detalles Bibliográficos
Autores principales: Carbonell, Abigail U., Cho, Chang Hoon, Tindi, Jaafar O., Counts, Pamela A., Bates, Juliana C., Erdjument-Bromage, Hediye, Cvejic, Svetlana, Iaboni, Alana, Kvint, Ifat, Rosensaft, Jenny, Banne, Ehud, Anagnostou, Evdokia, Neubert, Thomas A., Scherer, Stephen W., Molholm, Sophie, Jordan, Bryen A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6684583/
https://www.ncbi.nlm.nih.gov/pubmed/31388001
http://dx.doi.org/10.1038/s41467-019-11437-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6684583/
https://www.ncbi.nlm.nih.gov/pubmed/31388001
http://dx.doi.org/10.1038/s41467-019-11437-w

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