Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia)-Reference-Cited by-同舟云学术

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Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia)

Published:1984-04-01 Issue:1 Volume:4 Page:29-32
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:NOPG

Author:

François J.,Lentini F.,De Rouck F.

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.3109/13816818409009891

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia;BMC Ophthalmology;2023-09-26

2. A Case of Gillespie Syndrome With Atypical Presentation;Cureus;2022-11-10

3. Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia;American Journal of Medical Genetics Part A;2021-11-12

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

5. 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

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