Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am J Hum Genet
; 108(6): 1095-1114, 2021 06 03.
Article
in En
| MEDLINE
| ID: mdl-33991472
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genetic Variation
/
Collagen
/
Cutis Laxa
/
Latent TGF-beta Binding Proteins
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Animals
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Am J Hum Genet
Year:
2021
Document type:
Article
Affiliation country: