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pubmed-article:10711674pubmed:abstractTextA two-generation consanguineous Pakistani family with autosomal recessive Leber congenital amaurosis (LCA, MIM 204,000) and keratoconus was identified. All affected individuals have bilateral keratoconus and congenital pigmentary retinopathy. The goal of this study was to link the disease phenotype in this family.lld:pubmed
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pubmed-article:10711674pubmed:articleTitleA novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.lld:pubmed
pubmed-article:10711674pubmed:affiliationDr. A.Q. Khan Research Laboratories, Biomedical and Genetic Engineering Division, Islamabad, Pakistan.lld:pubmed
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