TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Am J Med Genet A
; 182(8): 1977-1984, 2020 08.
Article
in En
| MEDLINE
| ID: mdl-32573066
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Tubulin
/
Fibrosis
/
Ophthalmoplegia
/
Genetic Predisposition to Disease
/
Malformations of Cortical Development
/
Intellectual Disability
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Child, preschool
/
Humans
/
Male
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2020
Type:
Article
Affiliation country:
Italy