Ocular Findings in a Patient With KAT6A Mutation.
J Pediatr Ophthalmol Strabismus
; 58(3): e9-e11, 2021.
Article
em En
| MEDLINE
| ID: mdl-34039162
ABSTRACT
KAT6A mutations are associated with intellectual disability, speech delays, dysmorphic facial features, and strabismus. However, detailed ocular findings of such patients have not yet been published. In this case report, the authors present a patient with a KAT6A mutation and optic nerve malformation. [J Pediatr Ophthalmol Strabismus. 2021;58(3)e9-e11.].
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Estrabismo
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
J Pediatr Ophthalmol Strabismus
Ano de publicação:
2021
Tipo de documento:
Article