Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Clin Genet
; 99(5): 694-703, 2021 05.
Article
in En
| MEDLINE
| ID: mdl-33495992
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ellis-Van Creveld Syndrome
/
Protein Disulfide-Isomerases
/
Unfolded Protein Response
/
Loss of Function Mutation
/
Infant, Premature, Diseases
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Animals
/
Humans
/
Male
Language:
En
Journal:
Clin Genet
Year:
2021
Document type:
Article
Affiliation country:
Country of publication: