Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
Alejandro García CastañoGustavo Pérez de NanclaresLeire MadariagaMireia AguirreÁlvaro MadridSara ChocrónInmaculada NadalMercedes NavarroElena LucasJulia FijoMar EspinoZilac EspitalettaVíctor García NietoDavid Barajas de FrutosReyner LozaGuillem PintosLuis Castañonull nullGema AricetaPublished in: PloS one (2017)
A poor correlation was found between a specific type of mutation in the CLCNKB gene and type III BS phenotype. Importantly, two CLCNKB mutations not previously described were found in our cohort.
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