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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...
| Autores principales: | , , |
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| Formato: | Texto |
| Lenguaje: | English |
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BioMed Central
2008
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| 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 |