Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): Compound heterozygous mutation in the claudin 16 (CLDN16) gene

BACKGROUND: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive disorder of renal calcium and magnesium wasting frequently complicated by progressive chronic renal failure in childhood or adolescence. METHODS: A 7 year old boy was investigated followin...

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Detalles Bibliográficos
Autores principales: Hampson, Geeta, Konrad, Martin A, Scoble, John
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562370/
https://www.ncbi.nlm.nih.gov/pubmed/18816383
http://dx.doi.org/10.1186/1471-2369-9-12

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562370/
https://www.ncbi.nlm.nih.gov/pubmed/18816383
http://dx.doi.org/10.1186/1471-2369-9-12

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