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...

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Detalles Bibliográficos
Autores principales: Willows, Jamie, Al Badi, Maryam, Richardson, Chloe, Al Sinani, Aisha, Edwards, Noel, Rice, Sarah, Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2019
Materias:
Case Report
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

Internet

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

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