Le syndrome de Gillespie : à propos de 2 cas familiaux
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference13 articles.
1. Aniridia, cerebellar ataxia, and oligophrenia in siblings;Gillespie;Arch. Ophthalmol.,1965
2. Web: Aniridie Network international. Gillespie syndrome (en anglais): http://www.aniridia.org/conditions.
3. Present limitations of molecular biological diagnostics in Gillespie syndrome;Kieslich;Klin. Padiatr.,2001
4. Gillepie syndrome phénotype with a t(X; 11) (p22.32; p12) de novo translocation;Dollfus;Am. J. Ophtalmol.,1998
5. Absence of PAX 6 Gene mutations in Gillespie syndrome (pPartial aniridia, cCerebellar ataxia and mental retardation);Glaser;Genomics,1994
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1. Mutations inSZT2result in early-onset epileptic encephalopathy and leukoencephalopathy;American Journal of Medical Genetics Part A;2018-04-25
2. A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome;American Journal of Medical Genetics Part A;2018-04-16
3. PAX6 aniridia syndrome;Current Opinion in Ophthalmology;2017-09
4. Cataract Surgery in Children with Anomalies of the Uvea;Pediatric Lens Diseases;2016-12-03
5. Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome;The American Journal of Human Genetics;2016-05
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