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We examined whether variants in genes related to sex hormone biosynthesis and metabolism were associated with hypospadias in humans. We examined 332 relatively common tag single-nucleotide polymorphisms (tagSNPs) in 20 genes. Analyses included 633 cases (84 mild, 322 moderate, 212 severe and 15 undetermined severity) and 855 population-based non-malformed(More)
Thyroid disease is a common problem among women of reproductive age but often goes undiagnosed. Maternal thyroid disease has been associated with increased risk of craniosynostosis. We hypothesized that known risk factors for thyroid disease would be associated with risk of craniosynostosis among women not diagnosed with thyroid disease. Analyses included(More)
Wernicke’s encephalopathy, an acute neuropsychiatric syndrome caused by thiamine (vitamin B 1 ) deficiency, is associated with serious clinical disease and can be fatal. It has rarely been reported in infants and children. We report a case of a 3-year-old girl with Wernicke’s encephalopathy. The patient’s diet had been severely unbalanced since the age of 2(More)
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