Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations.-Reference-Cited by-同舟云学术

Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations.

Published:1979-10-01 Issue:5 Volume:16 Page:373-378
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Crawfurd M D,Harcourt R B,Shaw P A

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference13 articles.

1. Marinesco-Sjogren syndrome: spinecerebellar ataxia, congenital cataract, somatic and mental retardation;Andersen, B.;Developmental Medicine and Child Neurology,1965

2. Die komplizierte, hereditar-familiare Optikusatrophie des Kindesalters; ein bisher nicht beschriebener Symptomkomplex;Behr, C.,1909

3. Atrophie optique infantile associee A des troubles generaux (syndrome de Behr);Franceschetti, A.; Bamatter, F.;Schweizerische Medizinische Wochenschrift,1940

4. ober eine neue mit Ophthalmoplegia externa progressiva kombinierte infantile form von zerebellarer Heredotaxie (P. Marie) bei vier Geschwistern. Archiv der;Franceschetti, A.; de Morsier, G.; Klein, D.,1945

5. Aniridia, cerebellar ataxia and oligophrenia in siblings;Gillespie, F.D.;Archives ofOphthalmology,1965

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1. Gillespie syndrome: An atypical form and review of the literature;Annals of Medicine & Surgery;2022-02

2. Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review;Neuropediatrics;2019-07-24

3. Pathophysiological consequences of isoform-specific IP3 receptor mutations;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2018-11

4. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect;The American Journal of Human Genetics;2016-05

5. Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome;PLOS ONE;2016-04-28