Articles with "genetics syndromic" as a keyword



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Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.

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Published in 2020 at "Experimental eye research"

DOI: 10.1016/j.exer.2020.107940

Abstract: 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… read more here.

Keywords: genetics syndromic; coach; genetics; coloboma ... See more keywords