Article
Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.
Molecular vision - 24 Jul 2009
Khan Arif O, Aldahmesh Mohammed A, Ghadhfan Faisal E, Al-Mesfer Saleh, Alkuraya Fowzan S
Abstract excerpt
PURPOSE: To assess for gammaD-crystallin (CRYGD) mutation in 2 Saudi patients with cerulean cataract and in a brother of one of the patients who had coralliform cataract. METHODS: Patients and all of their available relatives underwent ophthalmic examination and subsequent sequencing of the candidate gene CRYGD. RESULTS: In the first family, a 4-year-old boy with bilateral cerulean cataract and his 6-year-old...
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