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- W1971814467 abstract "Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3.91 at theta = 0). In a family in which the father and one of his daughters were severely affected, DNA analysis from a chorionic villus sample demonstrated that the fetus possessed the normal allele of COL2A1. Thereafter a normal child was born." @default.
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- W1971814467 date "1994-02-01" @default.
- W1971814467 modified "2023-09-23" @default.
- W1971814467 title "Prenatal exclusion of stickler syndrome" @default.
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- W1971814467 doi "https://doi.org/10.1002/pd.1970140211" @default.
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