CINCA Syndrome.
Indian Pediatr
;
2007 Dec; 44(12): 933-6
Artículo
en Inglés
| IMSEAR
| ID: sea-14953
ABSTRACT
CINCA syndrome is a genetic disorder characterized by early onset of recurrent fever, rash, progressive articular and neurological involvement. We report a 7-year-old girl with CINCA syndrome with an infrequent manifestation of retinal vasculitis and a relative paucity of neurological signs. She had a de novo F309S mutation in exon 3 of CIAS1 gene on chromosome 1.This is the first report of this entity from India.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Artritis
/
Azatioprina
/
Síndrome
/
Femenino
/
Humanos
/
Prednisolona
/
Proteínas Portadoras
/
Niño
/
Enfermedad Crónica
/
Factores de Edad
Idioma:
Inglés
Revista:
Indian Pediatr
Año:
2007
Tipo del documento:
Artículo
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