Open AccessInfantile Nephropathic Cystinosis - Homozygous c.516dupC Mutation of the CTNS Gene
Author(s) -
Vaia Dokousli,
Liana Fidani,
Despoina Tramma,
Athanasios Evangeliou,
Maria Ziaka
Publication year - 2022
Publication title -
medical science and discovery
Language(s) - English
Resource type - Journals
ISSN - 2148-6832
DOI - 10.36472/msd.v9i8.795
Subject(s) - cystinosis , failure to thrive , medicine , short stature , fanconi syndrome , frameshift mutation , tubulopathy , mutation , lysosomal storage disease , cystinuria , aminoaciduria , cystine , endocrinology , genetics , pediatrics , kidney , gene , disease , biology , urine , biochemistry , cysteine , enzyme