Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders

Acharya, A., Kavus, H., Dunn, P., Nasir, A., Folk, L., Withrow, K., Wentzensen, I. M., Ruzhnikov, M. R. Z., Fallot, C., Smol, T., Rama, M., Brown, K., Whalen, S., Ziegler, A., Barth, M., Chassevent, A., Smith-Hicks, C., Afenjar, A., Courtin, T., … Schrauwen, I. (2021). Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. Journal of Medical Genetics, 59(7), 669–677. https://doi.org/10.1136/jmedgenet-2021-107871
Authors:
Anushree Acharya
Haluk Kavus
Patrick Dunn
Abdul Nasir
Leandra Folk
Kara Withrow
Ingrid M. Wentzensen
Maura R. Z. Ruzhnikov
Camille Fallot
Thomas Smol
Mélanie Rama
Kathleen Brown
Sandra Whalen
Alban Ziegler
Magali Barth
Anna Chassevent
Constance Smith-Hicks
Alexandra Afenjar
Thomas Courtin
Solveig Heide
Esperanza Font-Montgomery
Caleb Heid
J. Austin Hamm
Donald R. Love
Farouq Thabet
Vinod K. Misra
Mitch Cunningham
Suzanne M. Leal
Irma Jarvela
Elizabeth A. Normand
Fanggeng Zou
Mayada Helal
Boris Keren
Erin Torti
Wendy K. Chung
Isabelle Schrauwen
Affiliated Authors:
Anushree Acharya
Haluk Kavus
Suzanne M. Leal
Mayada Helal
Wendy K. Chung
Isabelle Schrauwen
Columbia Affiliation:
Author Keywords:
genetic variation
human genetics
neurology
phenotype
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Publication Type:
Article
Unique ID:
10.1136/jmedgenet-2021-107871
PMID:
34321324
DOI:
10.1136/jmedgenet-2021-107871
Journal:
Journal of Medical Genetics
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record

Record Created: