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4
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"Microphthalmia," "isolated," with coloboma 2
- ... MACULAR DYSTROPHY; ODRMD MICROPHTHALMIA/COLOBOMA 1; MCOPCB1 MICROPHTHALMIA/COLOBOMA 2; MCOPCB2 MICROPHTHALMIA, ISOLATED 2; MCOP2 MICROPHTHALMIA, SYNDROMIC 16; MCOPS16 MICROPHTHALMIA, ISOLATED ...
- ... Because it is unlikely that females will have two altered copies of a particular gene, males are ... Genetic Testing ...
- ... with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub ...
- ... A, Amor D, Savarirayan R. Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. Am J Med ...