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10 p, 1.1 MB Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis / García-Castaño, Alejandro (Instituto de Investigación Sanitaria Biocruces Bizkaia) ; Perdomo-Ramirez, Ana (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Vall-Palomar, Mònica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ramos-Trujillo, Elena (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Madariaga, Leire (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Ariceta Iraola, Gema (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Claverie-Martin, Felix (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife))
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubulopathy characterized by excessive urinary wasting of magnesium and calcium, bilateral nephrocalcinosis, and progressive chronic renal failure in childhood or adolescence. [...]
2020 - 10.1002/mgg3.1475
Molecular genetics & genomic medicine, Vol. 8 (september 2020)  
Detailed record - Creative Commons

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