Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia
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DOI: 10.12688/f1000research.19006.2
Abstract: Genetic mutations causing familial hypomagnesaemia syndromes are well-recognised. Affected patients can present with severe symptoms of hypomagnesaemia, such as seizures or cardiac arrhythmia. We report an affected child, from a consanguineous family, who presented in… read more here.
Keywords: hypomagnesaemia; report investigation; investigation molecular; familial hypomagnesaemia ... See more keywords