Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis

Oyama, N., Vaneynde, P., Reynhout, S., Pao, E. M., Timms, A., Fan, X., Foss, K., Derua, R., Janssens, V., Chung, W., & Mirzaa, G. M. (2022). Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis. Journal of Medical Genetics, 60(5), 511–522. https://doi.org/10.1136/jmg-2022-108713
Authors:
Nora Oyama
Pieter Vaneynde
Sara Reynhout
Emily M Pao
Andrew Timms
Xiao Fan
Kimberly Foss
Rita Derua
Veerle Janssens
Wendy Chung
Ghayda M Mirzaa
Affiliated Authors:
Xiao Fan
Wendy Chung
Author Keywords:
genetics
genetic research
Publication Type:
Article
Unique ID:
10.1136/jmg-2022-108713
PMID:
Publication Date:
Data Source:
PubMed

Record Created: