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Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.

29 de mayo de 2017
Bartter's syndrome; Genetics and phenotype; Spanish mutation with founder effect; Classic Bartter.

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.