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Isolated microphthalmia 2
- ... 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 ...
- ... 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 ...
- ... as CHARGE syndrome, Fraser syndrome type 1 or 2, and oculofaciocardiodental syndrome. When ... Microphthalmia occurs in approximately 1 ...
- ... Because it is unlikely that females will have two altered copies of a particular gene, males are ... Genetic Testing ...
- ... gene variants may have anophthalmia or microphthalmia alone (isolated anophthalmia or microphthalmia), or they may have anophthalmia or microphthalmia as ...
- ... Manitoba oculotrichoanal syndrome is estimated to occur in 2 to 6 in 1,000 people in a small isolated Ojibway-Cree community in northern Manitoba, Canada. Although ...
- ... cleft lip), one central front tooth instead of two (a single maxillary central incisor), and a flat nasal bridge. The eyeballs may be abnormally small (microphthalmia) or absent (anophthalmia).Some individuals with nonsyndromic holoprosencephaly ...
- ... syndromes. AJNR Am J Neuroradiol. 2011 Feb;32(2):230-7. doi: 10.3174/ajnr.A2073. Epub 2010 Apr 1. Citation on PubMed Keogh IJ, Troulis MJ, Monroy AA, Eavey RD, Kaban LB. Isolated microtia as a marker for unsuspected hemifacial microsomia. ...