A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency.
Pediatr Allergy Immunol
; 29(7): 776-781, 2018 11.
Article
in En
| MEDLINE
| ID: mdl-30076641
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Rubinstein-Taybi Syndrome
/
Severe Combined Immunodeficiency
/
E1A-Associated p300 Protein
Type of study:
Risk_factors_studies
Limits:
Adolescent
/
Humans
/
Male
Language:
En
Journal:
Pediatr Allergy Immunol
Journal subject:
ALERGIA E IMUNOLOGIA
/
PEDIATRIA
Year:
2018
Document type:
Article
Affiliation country: