Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations-Reference-Cited by-同舟云学术

Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations

Published:2018-06 Issue: Volume:10 Page:172-179
ISSN:2451-9936
Container-title:American Journal of Ophthalmology Case Reports
language:en
Short-container-title:American Journal of Ophthalmology Case Reports

Author:

Chauhan Bharesh K.^ORCID,Medsinge Anagha,Baumgartner Matthew P.,Scanga Hannah L.,Kamakari Smaragda^ORCID,Gajdosova Eva,Camacho Carlos J.,Nischal Ken K.

Funder

National Institutes of Health CORE

Eye and Ear Foundation of Pittsburgh

Research to Prevent Blindness

Publisher

Elsevier BV

Subject

Ophthalmology

Reference30 articles.

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4. PAX6 gene variations associated with aniridia in south India;Neethirajan;BMC Med Genet,2004

5. PAX6 missense mutation in isolated foveal hypoplasia;Azuma;Nat Genet,1996

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3. Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations;Japanese Journal of Ophthalmology;2020-08-28

4. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction;Genetics in Medicine;2020-03