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

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

Understanding of the genetic factors and molecular mechanisms underlying neurodevelopmental disorders remains incomplete. In this study, authors show that microdeletions in the gene ANKS1B lead to loss of the neuronal synapse-enriched protein AIDA-1 and to a novel neurodevelopmental syndrome

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Autores principales: Abigail U. Carbonell, Chang Hoon Cho, Jaafar O. Tindi, Pamela A. Counts, Juliana C. Bates, Hediye Erdjument-Bromage, Svetlana Cvejic, Alana Iaboni, Ifat Kvint, Jenny Rosensaft, Ehud Banne, Evdokia Anagnostou, Thomas A. Neubert, Stephen W. Scherer, Sophie Molholm, Bryen A. Jordan
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
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Science
Q
Acceso en línea:https://doaj.org/article/ef748cfb4766436a857ff4345e07f573
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