Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2
Sign Up to like & getrecommendations! Published in 2017 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1301967
Abstract: ABSTRACT Background: Anophthalmia/microphthalmia/coloboma (MAC) spectrum encompasses the most severe malformations of the eye. Together, they have an incidence of 2 in 10,000 births and can be unilateral or bilateral. These disorders are genetically heterogeneous.Materials and… read more here.
Keywords: variability syndromic; microphthalmia; syndromic microphthalmia; intrafamilial variability ... See more keywords
The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1698618
Abstract: Microphthalmia/anophthalmia (M/A) is considered a severe congenital malformation and is the cause of sight impairment worldwide, affecting 3%–12% of children. M/A, as a spectrum, can occur unilaterally or bilaterally, isolated or associated with systemic abnormalities… read more here.
Keywords: microphthalmia; analysis; deletion; syndromic microphthalmia ... See more keywords