A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report

Lippa, N. C., Barua, S., Aggarwal, V., Pereira, E., & Bain, J. M. (2021). A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report. BMC Neurology, 21(1). https://doi.org/10.1186/s12883-021-02380-9
Authors:
Natalie C. Lippa
Subit Barua
Vimla Aggarwal
Elaine Pereira
Jennifer M. Bain
Affiliated Authors:
Natalie C. Lippa
Subit Barua
Vimla Aggarwal
Elaine Pereira
Jennifer M. Bain
Columbia Affiliation:
Subjects:
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)
Developmental Disabilities (MeSH)
Intellectual Disability (MeSH)
Author Keywords:
ataxia
neurodevelopmental disorder
kdm5c
intellectual disability
case report
elink
Publication Type:
Article
Unique ID:
10.1186/s12883-021-02380-9
PMID:
34530748
DOI:
10.1186/s12883-021-02380-9
Journal:
BMC Neurology
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View PubMed Record
View Web of Science Record
View OpenAlex Record

Record Created: