P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians

Mehta, L., Begun, Y., Sanyoura, M., & Stanley, C. (2024). P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians. Genetics in Medicine Open, 2, 101138. https://doi.org/10.1016/j.gimo.2024.101138
Authors:
Lakshmi Mehta
Yakira Begun
May Sanyoura
Christine M. Stanley
Affiliated Authors:
Lakshmi Mehta
Yakira Begun
Columbia Affiliation:
Subjects:
Genomic Imprinting and Parental Gene Expression Control (OpenAlex Topic)
elink
Publication Type:
Article
Unique ID:
10.1016/j.gimo.2024.101138
DOI:
10.1016/j.gimo.2024.101138
Journal:
Genetics in Medicine Open
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record

Record Created: