Review
doi: 10.1002/ajmg.1320400428.
De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts
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- PMID: 1746620
- DOI: 10.1002/ajmg.1320400428
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Review
De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts
Am J Med Genet.
.
Abstract
We report on a patient with bilateral microphthalmia and unusual cataracts with a de novo pericentric inversion of chromosome (2)(p21q31). A literature review of previous associations of eye abnormalities and anomalies of chromosome 2 suggests probable gene locations for eye development.
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