A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria

Salokivi, T., Parkkola, R., Rajendran, Y., Bharadwaj, T., Acharya, A., Leal, S. M., Järvelä, I., Arvio, M., & Schrauwen, I. (2023). A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria. American Journal of Medical Genetics Part A, 194(4). Portico. https://doi.org/10.1002/ajmg.a.63478
Authors:
Tommi Salokivi
Riitta Parkkola
Yasmin Rajendran
Thashi Bharadwaj
Anushree Acharya
Suzanne M. Leal
Irma Järvelä
Maria Arvio
Isabelle Schrauwen
Affiliated Authors:
Yasmin Rajendran
Thashi Bharadwaj
Anushree Acharya
Suzanne M. Leal
Isabelle Schrauwen
Columbia Affiliation:
Subjects:
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)
Chromatin Remodeling in Cancer and Development (OpenAlex Topic)
Author Keywords:
cyfip2
intellectual disability
polymicrogyria
elink
Publication Type:
Article
Unique ID:
10.1002/ajmg.a.63478
PMID:
37975178
DOI:
10.1002/ajmg.a.63478
Journal:
American Journal of Medical Genetics, Part A
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View OpenAlex Record

Record Created: