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Genetic factors have been shown to play an important role in the etiology of osteoarthritis (OA). To elucidate the possible role of genetic variation in the estrogen receptors ॅ and ॆ (ER-ॅ, ER-ॆ) and androgen receptor (AR) genes with knee OA, the -1174(TA)n, c.1092+3607(CA)n, and...
Hereditary gingival fibromatosis (HGF) is a rare, benign disorder characterized by slowly progressive fibrous overgrowth of the gingiva. To date, two loci have been mapped in familial cases with autosomal dominant non-syndromic HGF: GINGF (MIM 135300) on chromosome 2p21-p22 and GINGF2 (MIM...
Most UK genetics centres offering predictive testing for hereditary non-polyposis colorectal cancer (HNPCC) use an extended counselling protocol originally developed for Huntington's disease. Shortened counselling may be more appropriate in the context of treatable genetic conditions such as...
Triple A syndrome (AAAS, OMIM#231550) is an autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima, neurodegeneration and autonomic dysfunction. Mutations in the AAAS gene on chromosome 12q13 have been reported in several subjects with AAAS. Over the last 5...
Patients with Usher syndrome type II (USH2) show moderate-to-severe hearing loss (HL), retinitis pigmentosa and normal vestibular function. The progression of HL remains controversial. To evaluate whether a phenotype–genotype correlation exists regarding the issue of progression of HL, only...
Despite attention to psychological issues during genetic counselling and testing for hereditary breast and ovarian cancer risk, limited information is available on cancer-specific distress among African American women being targeted for participation in counselling and testing. Therefore, the...
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