Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement. (2022)
Attributed to:
Exosomal protein deficiencies: how abnormal RNA metabolism results in childhood-onset neurological diseases
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1002/path.5812
PubMed Identifier: 34599609
Publication URI: http://europepmc.org/abstract/MED/34599609
Type: Journal Article/Review
Volume: 256
Parent Publication: The Journal of pathology
Issue: 1
ISSN: 0022-3417