De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Am J Hum Genet
; 107(3): 564-574, 2020 09 03.
Article
in En
| MEDLINE
| ID: mdl-32822602
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Atrophy
/
Cerebellar Diseases
/
Lysine Acetyltransferase 5
/
Intellectual Disability
Limits:
Adolescent
/
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
Am J Hum Genet
Year:
2020
Type:
Article
Affiliation country:
Canada