Article
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
Human mutation - 1 Aug 2010
Aragon-Martin Jose Antonio, Ahnood Dana, Charteris David G, Saggar Anand, Nischal Ken K, Comeglio Paolo, Chandra Aman, Child Anne H, Arno Gavin
Abstract excerpt
Ectopia lentis (EL) is genetically heterogeneous with both autosomal-dominant and -recessive forms. The dominant disorder can be caused by mutations in FBN1, at the milder end of the type-1 fibrillinopathies spectrum. Recently in a consanguineous Jordanian family, recessive EL was mapped to locus...
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