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Keywords: Diastrophic dysplasia
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Journal Articles
Subject Area:
Genetics
Hum Hered (1984) 34 (4): 266–268.
Published Online: 02 September 2008
...G. Holmgren; S. Jagell; B. Lagerkvist; I. Nordenson 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...