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Article

Ophthalmic and molecular genetic findings in Kniest dysplasia.

Eye (London, England) - 1 Apr 2015

Sergouniotis P I, Fincham G S, McNinch A M, Spickett C, Poulson A V, Richards A J, Snead M P

Abstract excerpt

PURPOSE: To study the variability of the ophthalmic phenotype in Kniest dysplasia. Kniest dysplasia is an inherited disorder associated with defects in type II collagen and characterised by short-trunked dwarfism, kyphoscoliosis, and enlarged joints with restricted mobility. Other features include marked hand arthropathy, cleft palate, hearing loss, and ocular abnormalities (myopia, abnormal vitreous, and high...

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Source

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Identifiers

PMID: 25592122
DOI: 10.1038/eye.2014.334
PMCID: PMC4816360

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Source receipt: pubmed, retrieved 7 Sept 2026.

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