Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Genome Med
; 13(1): 34, 2021 02 25.
Article
in En
| MEDLINE
| ID: mdl-33632302
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genetic Variation
/
Cataract
/
Coatomer Protein
/
Alleles
/
Intellectual Disability
/
Microcephaly
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Animals
/
Child
/
Female
/
Humans
/
Male
Language:
En
Journal:
Genome Med
Year:
2021
Document type:
Article
Affiliation country:
United kingdom
Country of publication:
United kingdom