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• W2007833294 abstract "Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability with a typical neurobehavioral profile, cardiovascular anomalies, and occasional infantile hypercalcemia. Majority of cases occur sporadically, and only a few cases of familial WBS have been reported. Although pre- and post-natal growth retardation is a common clinical feature of the syndrome, growth hormone deficiency is detected only in a few patients. To our knowledge, there has only been one report about familial Williams-Beuren syndrome in the Turkish population. Here, we report on the three molecular cytogenetically confirmed familial Williams-Beuren syndromes detected in a family with familial short stature. The father, daughter, and son analyzed with clinical and laboratory findings, and reasons of the short stature in Williams-Beuren syndrome are discussed through the literature." @default.
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• W2007833294 date "2014-01-01" @default.
• W2007833294 modified "2023-10-16" @default.
• W2007833294 title "Clinical expression of familial Williams-Beuren syndrome in a Turkish family" @default.
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• W2007833294 doi "https://doi.org/10.1515/jpem-2013-0167" @default.
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