Article ID Journal Published Year Pages File Type
8644214 European Journal of Medical Genetics 2018 5 Pages PDF
Abstract
We report the clinical and neuroradiological findings in a young boy harboring the 9p deletion syndrome including the novel findings of thalamic infarction and germinal matrix haemorrhage and neonatal hyperinsulinemic hypoglycemia. Both the hypoglycemic events and the ventriculomegaly found in this patient have previously only been reported in two patients, while the thalamic infarction and germinal matrix haemorrhage are novel features.
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Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
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