Browsing by Author "Perdomo Ramírez, Ana"
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Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Monnier, Xavier; García Castaño, Alejandro; Perdomo Ramírez, Ana; Vall Palomar, Mònica; Ramos Trujillo, Elena; Madariaga Domínguez, Leire ; Ariceta, Gema; Claverie Martín, Félix (Wiley, 2020-11)Background: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubulopathy characterized by excessive urinary wasting of magnesium and calcium, bilateral nephrocalcinosis, ...