Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.
Hum Genet
; 132(5): 537-52, 2013 May.
Article
in En
| MEDLINE
| ID: mdl-23354975
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
X Chromosome
/
Abnormalities, Multiple
/
Chromosomes, Human, Pair 5
/
Nuclear Proteins
/
Histone Demethylases
/
Haploinsufficiency
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Adult
/
Animals
/
Female
/
Humans
Language:
En
Journal:
Hum Genet
Year:
2013
Type:
Article
Affiliation country:
United States