Phenotypic variability in FHHNC
نویسندگان
چکیده
World J Pediatr, Vol 8 No 2 . May 15, 2012 . www.wjpch.com 177 Author Affi liations: Department of Pediatrics, University of California, San Francisco, California 94143, USA (Seeley HH); Department of Pediatrics, University of California, Davis, California 95616, USA (Loomba-Albrecht LA, Butani L); Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics, Weisswasser, Germany (Nagel M); Department of Pediatrics, Vanderbilt University, Nashville, Tennessee 37232, USA (Bremer AA)
منابع مشابه
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: the first four patients in Serbia.
INTRODUCTION Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disease characterized by excessive renal magnesium and calcium wasting, bilateral nehrocalcinosis and progressive renal failure. This is the first report of FHHNC of four patients in Serbia. OUTLINE OF CASES The first three patients were siblings from the same family. The index...
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