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Article

Clinical and molecular characterization of a family with autosomal recessive cornea plana.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Sept 2005

Ebenezer Neil D, Patel Chetankumar B, Hariprasad Seenu M, Chen Li L, Patel Reshma J, Hardcastle Alison J, Allen Richard C

Abstract excerpt

BACKGROUND: Autosomal recessive cornea plana is characterized by a flattened corneal surface associated with hyperopia and various anterior segment abnormalities. Mutations have been detected in the keratocan gene (KERA), a member of the small leucine-rich proteoglycan family. OBJECTIVE: To clinically and molecularly characterize a consanguineous family of Hispanic origin in which 3 individuals are affected with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16157807
DOI: 10.1001/archopht.123.9.1248

Genes

KERA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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