Reply-MSK and dRTA: a puzzling association

GIGLIO, SABRINA RITA;
2011-01-01

Abstract

We cannot conclude that MSK is ever a consequence of dRTA, but since MSK is a heterogeneous condition, as also stressed by Gambaro et al., for the first time, our study has highlighted the association of two rare renal diseases coupled with the genes responsible of dRTA, and it revealed a possible correlation between MSK and dRTA. Further studies are certainly needed to clarify not only the relationship between these two clinical conditions but also the phenotypic expression of dRTA, which is still not well known.
2011
dRTA
MSK
mutation
ATP6V1 gene
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