Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
Am J Med Genet A
; 179(4): 634-638, 2019 04.
Article
in En
| MEDLINE
| ID: mdl-30737887
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Rubinstein-Taybi Syndrome
/
Exons
/
CREB-Binding Protein
/
Mutation
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Female
/
Humans
/
Male
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2019
Type:
Article
Affiliation country:
Italy