Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
Korean Journal of Ophthalmology
;
: 316-318, 2012.
Artigo
em Inglês
| WPRIM
| ID: wpr-194313
ABSTRACT
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Doenças Retinianas
/
Trissomia
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 14
/
Mosaicismo
Limite:
Feminino
/
Humanos
/
Recém-Nascido
Idioma:
Inglês
Revista:
Korean Journal of Ophthalmology
Ano de publicação:
2012
Tipo de documento:
Artigo
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