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- W2060000714 abstract "Mutations in the KIF21A gene are detected in the patients with congenital fibrosis of the extraocular muscles. Mutations in the PAX6 gene are detected in the patients with congenital aniridia.Herein we report a boy with both congenital fibrosis of extraocular muscles and aniridia. Sequence analysis of his KIF21A and PAX6 genes reveals a 1-bp deletion (c.745delC) in the PAX6 gene and a missense mutation of c.2860C > T (p.Arg954Trp) in KIF21A.This study demonstrates that the occurrence of independent mutations in more than a single gene in a patient may lead to a complex phenotype." @default.
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- W2060000714 date "2013-06-21" @default.
- W2060000714 modified "2023-09-25" @default.
- W2060000714 title "Inherited KIF21A and PAX6 gene mutations in a boy with congenital Fibrosis of extraocular muscles and aniridia" @default.
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- W2060000714 doi "https://doi.org/10.1186/1471-2350-14-63" @default.
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