Article
Lack of FOXE3 coding mutation in a case of congenital aphakia.
Ophthalmic genetics - 1 Jan 2000
Sano Yusuke, Matsukane Yusuke, Watanabe Akihisa, Sonoda Ko-Hei, Kondo Hiroyuki
Abstract excerpt
PURPOSE: To report the findings in a patient with congenital primary aphakia, a rare disease known to be caused by mutations in the FOXE3 gene. METHODS: The clinical appearances and visual functions of the patient were determined from the medical records. Genetic analyses were performed to search for mutations in the FOXE3 gene by Sanger sequencing and whole exome sequencing. RESULTS: The 2-month-old male patient...
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