Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Article
in En
| MEDLINE
| ID: mdl-33909992
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
RNA-Binding Proteins
/
Craniofacial Abnormalities
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Loss of Function Mutation
/
Heterozygote
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Language Development Disorders
/
Intellectual Disability
Type of study:
Clinical_trials
/
Prognostic_studies
Limits:
Adolescent
/
Adult
/
Child
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Child, preschool
/
Female
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Humans
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Infant
/
Male
Language:
En
Journal:
Am J Hum Genet
Year:
2021
Type:
Article