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The genetic architecture of aniridia and Gillespie syndrome.
Hall HN, Williamson KA, FitzPatrick DR. Hall HN, et al. 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.
This review focuses on iris development and then the clinical features and molecular genetics of these iris malformations. ...The causative gene has recently been identified as ITPR1. The same characteristic Gillespie syndrome-like iris, with aplasia o …
This review focuses on iris development and then the clinical features and molecular genetics of these iris malformations. ... …
Genetics and epidemiology of aniridia: Updated guidelines for genetic study.
Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo MA, Ayuso C, Cortón M. Blanco-Kelly F, et al. Arch Soc Esp Oftalmol (Engl Ed). 2021 Nov;96 Suppl 1:4-14. doi: 10.1016/j.oftale.2021.02.002. Epub 2021 Oct 22. Arch Soc Esp Oftalmol (Engl Ed). 2021. PMID: 34836588 Review.
Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical variability and overlapping with different abnormalities of the anterior and posterior segment. ...Some patients with atypical phenotyp …
Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clin …
Heminasal aplasia: a case report and review of the literature of the last 25 years.
van Kempen AA, Nabben FA, Hamel BC. van Kempen AA, et al. Clin Dysmorphol. 1997 Apr;6(2):147-52. Clin Dysmorphol. 1997. PMID: 9134295 Review.
We report a child with right-sided heminasal aplasia in combination with anomalies of the right eye and maxilla. ...The eye anomalies in our patient consisted of microphthalmia with blepharophimosis and coloboma of the iris, retina and upper eyelid. Also hypoplas …
We report a child with right-sided heminasal aplasia in combination with anomalies of the right eye and maxilla. ...The eye anomalies …