Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.
Clin Genet
; 100(3): 308-317, 2021 09.
Article
in En
| MEDLINE
| ID: mdl-34013567
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mucopolysaccharidoses
/
Mutation, Missense
/
Vesicular Transport Proteins
Type of study:
Risk_factors_studies
Limits:
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Clin Genet
Year:
2021
Document type:
Article
Affiliation country:
Turkey
Country of publication:
Denmark