Dominant coloboma-microphthalmos syndrom
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Ravine, David; Ragge, Nicola K.; Stephens, Dafydd; Oldridge, Michael; Wilkie, An
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Article
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1997
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John Wiley and Sons
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English
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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