Exome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation
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DOI: 10.1080/13816810.2016.1217549
Abstract: Microphthalmia is a structural birth defect in which one or both eyes are abnormally small. Microphthalmia may be classified as simple in which the eye is anatomically normal except for the decreased axial length or… read more here.
Keywords: staphylomatous malformation; novel homozygous; exome sequencing; dysgenesis ... See more keywords