Gillespie syndrome: 2 familial cases;Le syndrome de Gillespie : à propos de 2 cas familiaux

Archives de Pediatrie

Volumn 13, Issue 10, 2006, Pages 1323-1325

  Boughamoura, L ^a   Yacoub, M ^a   Abroug, M ^a   Chabchoub, I ^a   Bouguezzi, R ^a   Charfeddine, L ^b   Amri, F ^b   Essoussi, A S ^a  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b hôpital Kairouan   (Tunisia)

Author keywords

Aniridia; Cerebellar ataxia; Mental retardation; Syndrome

Indexed keywords

ANIRIDIA; ARTICLE; BIRTH; BRAIN; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; DEVELOPMENTAL DISORDER; EYE MALFORMATION; FAMILIAL DISEASE; FEMALE; GENETIC DISORDER; GILLESPIE SYNDROME; HUMAN; MALE; MENTAL DEFICIENCY; MYDRIASIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; RARE DISEASE; SYNDROME; CONGENITAL MALFORMATION; CONSANGUINITY; GENETICS; INFANT; SIBLING;

BRAIN; CHILD; CONSANGUINITY; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT; MALE; MENTAL RETARDATION; SIBLINGS; SYNDROME;

EID: 33748959854     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcped.2006.06.028     Document Type: Article

References (13)

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11. Wittig E.O., Moreira C.A., Freire-Maia N., et al. Partial aniridia, cerebellar ataxia and mental deficiency (Gillespie Syndrome) in two brothers. Am. J. Med. Genet. 30 (1988) 703-708
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