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A pair of siblings with diastrophic dysplasia and E trisomy mosaicism |
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| Authors: | G Holmgren S Jagell B Lagerkvist I Nordenson |
| Abstract: | A mixture of clinical signs seen in diastrophic dysplasia as well as in trisomy 18 was found in two siblings with an E trisomy mosaicism. The E trisomy mosaicism was present in blood and skin during the first years of life, but disappeared later on. |
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