Ocular Findings in a Patient With KAT6A Mutation.
J Pediatr Ophthalmol Strabismus
; 58(3): e9-e11, 2021.
Article
en 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
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Estrabismo
/
Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
J Pediatr Ophthalmol Strabismus
Año:
2021
Tipo del documento:
Article