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Article

Characterization of CTNS mutations in Arab patients with cystinosis.

Ophthalmic genetics - 1 Dec 2009

Aldahmesh Mohammed A, Humeidan Amal, Almojalli Hamad A, Khan Arif O, Rajab Mohammed, AL-Abbad Abbas A, Meyer Brian F, Alkuraya Fowzan S

Abstract excerpt

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...

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Source

Identifiers

PMID: 19852576
DOI: 10.3109/13816810903200953

Genes

CTNS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19852576-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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