Cataract-microcornea syndrome
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The cataract-microcornea syndrome is the association of congenital cataract and microcornea.
Genetics
Mutations in ABCA3 were found to be associated to this syndrome.[2]
Diagnosis
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Treatment
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References
- ↑ OMIM Entry - # 116200 - CATARACT 1, MULTIPLE TYPES; CTRCT1(link). omim.org.
- ↑ , Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome, Investigative Ophthalmology & Visual Science, 2014, Vol. 55, pp. 8031–43, DOI: 10.1167/iovs.14-14098, PMID: 25406294,
External links
Cataract-microcornea syndrome
Diagram illustrating autosomal dominant inheritance pattern.
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