Publications by authors named "Ekaterini Vamvakiti"

Background: Xq27.1 duplication encompassing SOX3 has been implicated in the aetiology of X-linked hypopituitarism associated with intellectual disability and neural tube defects. We describe the largest case series to date of 5 unrelated patients with SOX3 duplication with a variable clinical phenotype, including the smallest reported SOX3 duplication.

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Emphysematous gastritis is a rare and frequently fatal condition caused by invasion of gas-forming bacteria into the gastric wall. There have only been a handful of reported cases in the paediatric population, and none of these have evidence of candidal infection or mucormycosis. Patients typically present with abdominal pain, vomiting, malaena and haematemesis.

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