A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features.
Am J Med Genet A
; 152A(11): 2939-41, 2010 Nov.
Article
in En
| MEDLINE
| ID: mdl-20949605
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Rubinstein-Taybi Syndrome
/
CREB-Binding Protein
/
Mutation
Limits:
Adult
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
/
Pregnancy
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2010
Document type:
Article
Country of publication:
EEUU
/
ESTADOS UNIDOS
/
ESTADOS UNIDOS DA AMERICA
/
EUA
/
UNITED STATES
/
UNITED STATES OF AMERICA
/
US
/
USA