A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
J Hum Genet
; 68(8): 543-550, 2023 Aug.
Article
in En
| MEDLINE
| ID: mdl-37072624
Full text:
1
Database:
MEDLINE
Main subject:
Intellectual Disability
/
Microcephaly
Type of study:
Etiology_studies
/
Prognostic_studies
Limits:
Humans
Language:
En
Year:
2023
Type:
Article