A Case of Type 1 Stickler Syndrome Caused by a Novel Mutation in COL2A1 / 대한내과학회지
Korean Journal of Medicine
;
: 738-742, 2014.
Artículo
en Coreano
| WPRIM
| ID: wpr-219252
ABSTRACT
Stickler syndrome is a genetic disorder characterized by ophthalmologic, craniofacial, audiologic, and joint problems. In this report, we describe a 10-year-old boy presenting with a flat face, high myopia, retinal detachment, arthropathy, short stature, and mental retardation. Sequencing of the COL2A1 gene revealed a novel mutation, c.3055C > T (p.Pro1019Ser), consistent with a diagnosis of Type 1 Stickler Syndrome.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Desprendimiento de Retina
/
Diagnóstico
/
Articulaciones
/
Discapacidad Intelectual
/
Miopía
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Korean Journal of Medicine
Año:
2014
Tipo del documento:
Artículo
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