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Article

Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita.

International ophthalmology - 1 Dec 2012

Aslan Deniz, Akata Rustu F, Holme Harriet, Vulliamy Tom, Dokal Inderjeet

Abstract excerpt

The aim of this study is to present the limbal stem cell deficiency (LSCD) cases with features resembling dyskeratosis congenita (DC), a heritable disease of stem cells principally caused by telomerase deficiency. The clinical, laboratory and molecular findings of four cases are presented. A complete systemic examination was performed in a standardized manner for each patient. Laboratory measurements included...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22814958
DOI: 10.1007/s10792-012-9611-8

Genes

DKC1
NHP2
NOP10
TERT
TINF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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