Disease: Aniridia cerebellar ataxia mental deficiency
- A Case of Gillespie Syndrome With Atypical Presentation
- A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
- A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
- A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
- Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant
- Aniridia as a clue for the diagnosis of Gillespie syndrome
- Congenital aniridia in children
- Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
- Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
- Genetics and epidemiology of aniridia: Updated guidelines for genetic study
- Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features
- Gillespie's Syndrome Phenotype in A Patient with a Homozygous Variant of Uncertain Significance in the ITPR1 Gene
- Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review
- Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome
- Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells
- National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician
- Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome
- Sulforophane glucosinolate. Monograph
- The genetic architecture of aniridia and Gillespie syndrome
- The Triad of Non-progressive Cerebellar Ataxia, Partial Aniridia and Psychomotor Delay - Gillespie Syndrome