[Gillespie syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia)]
- PMID: 6727263
[Gillespie syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia)]
Abstract
Two sisters presenting with a Gillespie 's syndrome are reported. This autosomal recessive Syndrome is characterized by a circumpupillary aplasia, non progressive cerebellar ataxia and oligophrenia.
Similar articles
-
Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers.Am J Med Genet. 1988 Jul;30(3):703-8. doi: 10.1002/ajmg.1320300302. Am J Med Genet. 1988. PMID: 3189393
-
Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia).Ophthalmic Paediatr Genet. 1984 Apr;4(1):29-32. doi: 10.3109/13816818409009891. Ophthalmic Paediatr Genet. 1984. PMID: 6544390
-
Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome.Am J Med Genet. 1990 Apr;35(4):468-9. doi: 10.1002/ajmg.1320350404. Am J Med Genet. 1990. PMID: 2333873
-
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter.Bull Soc Belge Ophtalmol. 1993;250:37-42. Bull Soc Belge Ophtalmol. 1993. PMID: 7952360 Review.
-
The genetic architecture of aniridia and Gillespie syndrome.Hum Genet. 2019 Sep;138(8-9):881-898. doi: 10.1007/s00439-018-1934-8. Epub 2018 Sep 22. Hum Genet. 2019. PMID: 30242502 Free PMC article. Review.
Cited by
-
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016. PLoS One. 2016. PMID: 27124303 Free PMC article.
-
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.Am J Hum Genet. 2016 May 5;98(5):971-980. doi: 10.1016/j.ajhg.2016.03.004. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108797 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Medical