A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. (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/ajmg.a.62494
PubMed Identifier: 34519148
Publication URI: http://europepmc.org/abstract/MED/34519148
Type: Journal Article/Review
Volume: 188
Parent Publication: American journal of medical genetics. Part A
Issue: 1
ISSN: 1552-4825