Associated Papers
Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.
Correia-Costa GR et al.
Genes, 2022
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.
David D et al.
Nephron, 2019
CTNS mutations in an American-based population of cystinosis patients.
Shotelersuk V et al.
American Journal of Human Genetics, 1998
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