coloboma

n.

缺损，（眼组织）残缺；

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
Visual acuity in children with coloboma: clinical features and a new phenotypic classification system
Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux.
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.
Mutation of the PAX 2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 9: 358-363
The mouse Pax21Neu mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmen...
The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developm...
Favor, J. et al. The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and re...