CINCA Syndrome.
Khemani, Chetna; Khubchandani, Raju.
Indian Pediatr
; 2007 Dec; 44(12): 933-6
Artículo
en Inglés
| IMSEAR | ID: sea-14953
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
Documentos relacionados