A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report

Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Affected individuals present in early infancy with seizures caused by the severe hypocalcemia and hypomagnesemia. By pr...

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Detalles Bibliográficos
Autores principales: Altıncık, Ayça, Schlingmann, Karl Peter, Tosun, Mahya Sultan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805040/
https://www.ncbi.nlm.nih.gov/pubmed/26759217
http://dx.doi.org/10.4274/jcrpe.2254

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