EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Am J Med Genet A
; 182(12): 2926-2938, 2020 12.
Article
in En
| MEDLINE
| ID: mdl-33043588
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Rubinstein-Taybi Syndrome
/
E1A-Associated p300 Protein
/
Mutation
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Systematic_reviews
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2020
Type:
Article
Affiliation country:
United States