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Article

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

16 Apr 2003

Abstract excerpt

Mutations in CRB1, the human homolog of Drosophila Crumbs, cause autosomal recessive blinding disorders of the retina. Whereas Crumbs is implicated in apical-basal epithelial polarity and photoreceptor morphogenesis, the role of CRB1 in normal or diseased retina remains unclear. We characterized the retinal organization in vivo of patients with CRB1 mutations and found that, unlike other inherited retinal...

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PMID: 12700176
DOI: 10.1093/hmg/ddg117

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