A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.
Hum Mutat
; 43(12): 1816-1823, 2022 12.
Article
in En
| MEDLINE
| ID: mdl-36317458
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Protein Serine-Threonine Kinases
/
Muscle Hypotonia
/
Muscular Diseases
Type of study:
Risk_factors_studies
Limits:
Humans
/
Infant
Language:
En
Journal:
Hum Mutat
Journal subject:
GENETICA MEDICA
Year:
2022
Type:
Article
Affiliation country:
United States