Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
Genet Med
; 24(2): 439-453, 2022 02.
Article
in En
| MEDLINE
| ID: mdl-34906501
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
NF-kappa B
/
Adaptor Proteins, Signal Transducing
Type of study:
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
Genet Med
Journal subject:
GENETICA MEDICA
Year:
2022
Type:
Article
Affiliation country:
Italy