Article
Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.
Journal of human genetics - 1 Sept 2009
Ben Yahia Salim, Ouechtati Farah, Jelliti Bechir, Nouira Sonia, Chakroun Sonia, Abdelhak Sonia, Khairallah Moncef
Abstract excerpt
Microspherophakia seems to be the most specific feature of the Weill-Marchesani Syndrome, which could be due to mutations within the ADAMTS10 gene. As the locus responsible for isolated microspherophakia is still unknown, because the reported cases are rare, we checked whether the ADAMTS10 gene is involved in isolated microspherophakia in a Tunisian family. A consanguineous family (MSP-M), including six family...
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