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Your search keyword '"Dysplasia -- Case studies"' showing total 2 results
Start Over Descriptor "Dysplasia -- Case studies" Publisher bmj publishing group ltd.
2 results on '"Dysplasia -- Case studies"'

1. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

Author

Jakkula, E., Lohiniva, J., Capone, A., Bonafe, L., Marti, M., Schuster, V., Giedion, A., Eich, G., Boltshauser, E., Ala-Kokko, L., and Superti-Furga, A.

Subjects
Case studies, Dysplasia -- Case studies
Abstract

J Med Genet 2003;40:942-948 Multiple epiphyseal dysplasia (MED) is clinically and genetically a heterogeneous disorder that affects growth centres and results in delayed and irregular mineralisation of the ossification centres. [...]

Published
2003

2. Skeletal dysplasia with unusual visceral manifestations. (Skeletal Dysplasia)

Author

Ahuja, S.R., Karande, S., and Kulkarni, M.V.

Subjects
Case studies, Dysplasia -- Case studies, Genetic disorders -- Case studies
Abstract

A boy aged 4.5 years, born of a third degree consanguineous marriage, presented with short stature, a lump on the left side of the abdomen that had been seen since [...]

Published
2002

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