A Case of Gillespie Syndrome With Atypical Presentation
Author:
Publisher
Cureus, Inc.
Subject
Aerospace Engineering
Reference11 articles.
1. Gillespie syndrome: a report of two further cases;Nelson J;Am J Med Genet,1997
2. Recessive and dominant de novo ITPR1 mutations cause Gillespie syndrome;Gerber S;Am J Hum Genet,2016
3. Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells;Kinoshita A;Development,2021
4. Gillespie's syndrome with minor cerebellar involvement and no intellectual disability associated with a novel ITPR1 mutation: report of a case and literature review;Stendel C;Neuropediatrics,2019
5. The triad of non-progressive cerebellar ataxia, partial aniridia and psychomotor delay - Gillespie syndrome;Saini AG;Indian J Pediatr,2016
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