Learn More
OBJECTIVE To describe the phenotype of Bothnia dystrophy, an autosomal recessive retinal dystrophy with an R234W mutation in the RLBP1 gene encoding cellular retinaldehyde-binding protein. DESIGN(More)
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder that predisposes to predominantly colorectal and endometrial cancers due to germline mutations in DNA mismatch(More)