Ocular colobomas and microphthalmos, isolated or as part of a syndrome, are usually sporadic and only rarely found in large families. A 4-generation family with autosomal dominant uveal coloboma and microphthalmos associated with cleft lip and palate was re-evaluated. Wide variability in expression
Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome)
✍ Scribed by Puga, A.C.S.; Nogueira, A.H.H.; F�lix, T.M.; Kwitko, S
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 33 KB
- Volume
- 80
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19981102)80:2<177::aid-ajmg17>3.0.co;2-d
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