Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2
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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