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Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia
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 the first weeks of life with...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
F1000 Research Limited
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694456/ https://www.ncbi.nlm.nih.gov/pubmed/31448104 http://dx.doi.org/10.12688/f1000research.19006.2 |