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- W3148714446 abstract "<br>Approximately 60%–90% of the isolated aniridia (IA) in India is reported to be sporadic (simplex) in nature, with much lesser contribution by autosomal dominant inheritance. The Indian genomic profile for IA indicates the commonest mutations to be single nucleotide variations in <i>PAX6</i>, whereas copy number variants, especially deletions, are rare. Deletions involving <i>PAX6</i> along with another gene are even rarer. Our paper highlights an unreported Indian scenario of prenatal genetic counseling for sporadic IA due to <i>PAX6</i> and <i>ELP4</i> exon deletions and expands the mutation spectrum associated with IA in India.<br>" @default.
- W3148714446 created "2021-04-13" @default.
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- W3148714446 date "2021-01-01" @default.
- W3148714446 modified "2023-09-26" @default.
- W3148714446 title "Prenatal diagnosis for isolated aniridia: A case report and simplified diagnostic approach for ophthalmologists" @default.
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- W3148714446 doi "https://doi.org/10.4103/ijo.ijo_2208_20" @default.
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