Article
Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts.
Ophthalmic genetics - 1 Dec 2002
Hilal Latifa, Nandrot Emeline, Belmekki Mohamed, Chefchaouni Mohamed, El Bacha Siham, Benazzouz Bouchra, Hajaji Yassir, Gribouval Olivier, Dufier Jean, Abitbol Marc, Berraho Amina
Abstract excerpt
Autosomal dominant cerulean cataracts (ADCC) have previously been mapped to two loci: one on chromosome 17q24 and the other on chromosome 22q11.2-q12.2, which includes the beta-B2 crystallin (CRYBB2) candidate gene. Using polymorphic markers in these regions (D17S802, D17S836, D17S1806 and CRYBB2, D22S258) for linkage analysis, we excluded these loci in a large Moroccan family presenting with an unusual form of...
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