ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

ANK3 encodes multiple isoforms of ankyrin-G, resulting in variegated tissue expression and function, especially regarding its role in neuronal development. Based on the zygosity, location, and type, ANK3 variants result in different neurodevelopmental phenotypes. Autism spectrum disorder has been as...

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Detalles Bibliográficos
Autores principales: Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariëtte J. V., Van der Ven, Amelie, Thiele, Holger, Altmüller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K., Lessel, Davor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8426245/
https://www.ncbi.nlm.nih.gov/pubmed/34218362
http://dx.doi.org/10.1007/s10048-021-00655-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8426245/
https://www.ncbi.nlm.nih.gov/pubmed/34218362
http://dx.doi.org/10.1007/s10048-021-00655-4

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