First phenotypic description of a female patient with c.610âT > C variant of GLA: a renal-predominant presentation of Fabry disease
Greillier, Sophie, Daniel, Laurent, Caillaud, Catherine, Dussol, Bertrand, Touchard, Guy, Goujon, Jean-Michel, Jourde-Chiche, Noémie, Bobot, MickaëlVolume:
21
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-020-01071-5
Date:
December, 2020
File:
PDF, 727 KB
2020