Publications by authors named "Amal Humeidan"
Background: Cystinosis is an autosomal recessive disease characterized by impaired transport of free cystine out of lysosomes with resulting renal and ophthalmic manifestations. Mutations in CTNS, encoding cystinosin, are the only known cause of this autosomal recessive disorder with more than 85 different mutations described so far.
Purpose: To identify CTNS mutations in Arab cystinosis patients.