A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Neurogenetics
; 17(3): 173-8, 2016 07.
Article
in En
| MEDLINE
| ID: mdl-27094857
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ataxia
/
Developmental Disabilities
/
Mutation, Missense
/
Dental Enamel
/
DNA-Binding Proteins
/
Alcohol Oxidoreductases
/
Muscle Hypotonia
Type of study:
Risk_factors_studies
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
En
Journal:
Neurogenetics
Journal subject:
GENETICA
/
NEUROLOGIA
Year:
2016
Type:
Article
Affiliation country:
United States