Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene

por Drosataki, Eleni, Maragkou, Sevasti, Dermitzaki, Kleio, Stavrakaki, Ioanna, Lygerou, Dimitra, Latsoudis, Helen, Pleros, Christos, Petrakis, Ioannis, Zaganas, Ioannis, Stylianou, Kostas
Publicado 2022

The p.Pro482Ala Variant in the CNNM2 Gene Causes Severe Hypomagnesemia Amenable to Treatment with Spironolactone

por Petrakis, Ioannis, Drosataki, Eleni, Stavrakaki, Ioanna, Dermitzaki, Kleio, Lygerou, Dimitra, Konidaki, Myrto, Pleros, Christos, Kroustalakis, Nikolaos, Maragkou, Sevasti, Androvitsanea, Ariadni, Stylianou, Ioannis, Zaganas, Ioannis, Stylianou, Kostas
Publicado 2022