Cataract-microcornea syndrome
| Cataract-microcornea syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 116150 |
The cataract-microcornea syndrome is the association of congenital cataract and microcornea.
Genetics
Mutations in ABCA3 were found to be associated to this syndrome.[1]
References
- ↑ Chen, P; Dai, Y; Wu, X; Wang, Y; Sun, S; Xiao, J; Zhang, Q; Guan, L; Zhao, X; Hao, X; Wu, R; Xie, L (2014). "Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome". Investigative Ophthalmology & Visual Science 55: 8031–43. doi:10.1167/iovs.14-14098. PMID 25406294.
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