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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Spondyloepiphyseal dysplasia tarda: description of one case
D Di Motta1, A Sudanese, R Bergamaschi
11 Divisione Istituto Ortopedico Rizzoli, Bologna.
La Chirurgia Degli Organi Di Movimento
|May 10, 2006
Abstract:
The authors describe the case of an Italian male aged 19 years who came to their observation for severe limping with reduction in hip movement and spondyloepiphyseal radiographic modifications of an osteochondrodysplastic origin. The studies carried out led to a diagnosis of spondyloepiphyseal dysplasia tarda (SEDT).
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