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:
Author Keywords:
ataxia
case report
intellectual disability
kdm5c
neurodevelopmental disorder
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

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