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ABSTRACT Aniridia is an inherited ocular disorder of variable expressivity characterized by iris hypoplasia. A candidate aniridia gene, _AN_, which is the human homologue of the mouse Pax–6

gene, has recently been isolated by positional cloning from the WAGR region of 11p13. Here we describe mutations in this gene in two cases of sporadic aniridia, one detected at the DNA level

and one at the RNA level, both of which are predicted to affect protein function. Mutations in _Pax–6_ have been described previously in _Small eye_, the proposed mouse model for aniridia.

We present new phenotypic evidence for the validity of this mouse model. Access through your institution Buy or subscribe This is a preview of subscription content, access via your

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* Learn about institutional subscriptions * Read our FAQs * Contact customer support SIMILAR CONTENT BEING VIEWED BY OTHERS HAPLOINSUFFICIENCY OF _PRR12_ CAUSES A SPECTRUM OF

NEURODEVELOPMENTAL, EYE, AND MULTISYSTEM ABNORMALITIES Article 06 April 2021 _ARHGAP35_ IS A NOVEL FACTOR DISRUPTED IN HUMAN DEVELOPMENTAL EYE PHENOTYPES Article Open access 01 December 2022

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Western General Hospital, Edinburgh, EH4 2XU, UK Tim Jordan, Isabel Hanson, Jane Prosser, Anne Seawright, Nicholas Hastie & Veronica van Heyningen * Institute of Medical Genetics,

Academy of Medical Sciences, Moskvorechie St, 1, 115478, Moscow, CIS Dmitri Zaletayev * Division of Medical and Molecular Genetics, Guy's Hospital, St. Thomas Street, London, SE1 9RT,

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T., Hanson, I., Zaletayev, D. _et al._ The human PAX6 gene is mutated in two patients with aniridia. _Nat Genet_ 1, 328–332 (1992). https://doi.org/10.1038/ng0892-328 Download citation *

Received: 04 May 1992 * Accepted: 27 May 1992 * Issue Date: 01 August 1992 * DOI: https://doi.org/10.1038/ng0892-328 SHARE THIS ARTICLE Anyone you share the following link with will be able

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