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In the US, approximately one in every 1000 children has hearing loss sufficiently severe to interfere with the acquisition of normal speech (Ann NY Acad Sci 630 (1991) 16). The causes of non-syndromic hearing loss (NSHL) are known to be heterogeneous, with genetic factors accounting for...
Although the physical characteristics of Cohen syndrome have been studied in considerable detail, data on other aspects of development are relatively limited. We report findings on cognitive, linguistic, and adaptive profiles in a group of 45 individuals clinically diagnosed with Cohen syndrome...
Glaucoma is one of the major causes of blindness in the Indian population. Mutations in the myocilin (MYOC) gene have been reported in different populations. However, reports on MYOC mutations in Indian primary open-angle glaucoma (POAG) patients and juvenile open-angle glaucoma (JOAG) patients...
The case of two female patients with de novo terminal deletion of the long arm of chromosome 10, one with del(10)(q26.2) and the other with del(10)(q26.3), is reported. Both presented with megabladder associated with urinary tract abnormalities. The case of four similar patients has been...
Present guidelines to identify hereditary non-polyposis colorectal cancer (HNPCC) families are criticized for limitations in accuracy. The Amsterdam criteria I and II (AC I and AC II) are used to predict a germline mutation in one of the mismatch repair genes. In families not fulfilling the AC I...
The number of prenatal genetic tests that are being offered to women is constantly increasing. However, there is little national data as to who is performing the tests and the reasons for doing or not doing so. The aim of the study was to evaluate the proportion of Israeli Moslem women who...
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