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A Rare Association of Aniridia with Conjunctival Xerosis in Two Indian Siblings with PAX6 Mutation

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Specialty Ophthalmology
Date 2020 Oct 30
PMID 33120723
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References
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Vincent M, Pujo A, Olivier D, Calvas P . Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. Eur J Hum Genet. 2003; 11(2):163-9. DOI: 10.1038/sj.ejhg.5200940. View

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