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Article

Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.

Experimental eye research - 1 Apr 2020

George Aman, Cogliati Tiziana, Brooks Brian P

Abstract excerpt

Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood blindness. Uveal coloboma is on a phenotypic continuum with microphthalmia (small eye) and anophthalmia (primordial/no ocular tissue), the so-called MAC spectrum. This review gives a brief overview of the developmental biology behind...

Topics

Abnormalities, Multiple
Animals
Ataxia
Brain
Cholestasis
Coloboma
Genetic Predisposition to Disease
Humans
Liver Diseases
Uvea

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32032630
DOI: 10.1016/j.exer.2020.107940
PMCID: PMC7310839

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