The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants

Furia, F., Levy, A. M., Theunis, M., Bamshad, M. J., Bartos, M. N., Bijlsma, E. K., Brancati, F., Cejudo, L., Chong, J. X., De Luca, C., Dean, S. J., Egense, A., Goel, H., Guenzel, A. J., Hüffmeier, U., Legius, E., Mancini, G. M. S., Marcos‐Alcalde, I., Niclass, T., … Tümer, Z. (2024). The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants. Clinical Genetics. Portico. https://doi.org/10.1111/cge.14587
Authors:
Francesca Furia
Amanda M Levy
Miel Theunis
Michael J Bamshad
Meghan N Bartos
Emilia K Bijlsma
Francesco Brancati
Lucile Cejudo
Jessica X Chong
Chiara De Luca
Sarah Joy Dean
Alena Egense
Himanshu Goel
Adam J Guenzel
Ulrike Hüffmeier
Eric Legius
Grazia M S Mancini
Iñigo Marcos-Alcalde
Tanguy Niclass
Marc Planes
Sylvia Redon
David Ros-Pardo
Karen Rouault
Rachel Schot
Sarah Schuhmann
Joseph J Shen
Alice M Tao
Isabelle Thiffault
Hilde Van Esch
Ingrid M Wentzensen
Tahsin Stefan Barakat
Rikke S Møller
Paulino Gomez-Puertas
Wendy K Chung
Elena Gardella
Zeynep Tümer
Affiliated Authors:
Alice M Tao
Columbia Affiliation:
Author Keywords:
aggressivity
ankyrin-g
autism spectrum disorder
epilepsy
hypotonia
intellectual disability
language delay
neurodevelopmental disorder
sleep disturbances
ankyrin‐g
elink
Publication Type:
Article
Unique ID:
10.1111/cge.14587
PMID:
38988293
DOI:
10.1111/cge.14587
Journal:
Clinical Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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