Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Am J Hum Genet
; 102(5): 744-759, 2018 05 03.
Article
in En
| MEDLINE
| ID: mdl-29656859
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Autistic Disorder
/
Cerebellar Ataxia
/
Mutation, Missense
/
Nuclear Receptor Subfamily 1, Group F, Member 1
/
Genes, Dominant
/
Intellectual Disability
Type of study:
Clinical_trials
/
Prognostic_studies
Limits:
Adolescent
/
Adult
/
Aged80
/
Animals
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Am J Hum Genet
Year:
2018
Type:
Article
Affiliation country:
France