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Thanatophoric dysplasia in identical twins
I D Young1, I Patel, A C Lamont
1Department of Child Health, Leicester Royal Infirmary.
Journal of Medical Genetics
|April 1, 1989
Abstract:
Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence supporting new dominant mutations as the likely cause of thanatophoric dysplasia is reviewed.
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