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pro vyhledávání: '"I. Merete Rasmussen"'
Autor:
David L. Rimoin, I. Merete Rasmussen, Michael D. Briggs, Peter J. Roughley, Helen E. Gruber, Matthew L. Warman, Bjorn R. Olsen, Y. Edward Hsia, Juliet Yuen, Kent Reinker, Ann P. Garber, Judy Grover, Ralph S. Lachman, Daniel H. Cohn
Publikováno v:
Human Genetics. 93:236-242
We have identified a large family with a dominantly inherited chondrodysplasia characterized by a waddling gait, short limbs, and early onset osteoarthritis. The radiographic presentation resembles pseudoachondroplasia in childhood and multiple epiph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc2f6559a66f1e1f3efbd3dbe7882e2
https://doi.org/10.1007/bf00212015
https://doi.org/10.1007/bf00212015
Autor:
I. Merete Rasmussen, Juliet Yuen, David L. Rimoin, Michael D. Briggs, Daniel H. Cohn, James L. Weber, Kent Reinker, Ann Garber
Publikováno v:
Genomics. 18:656-660
Pseudoachondroplasia (PSACH) is a dominantly inherited form of short-limb dwarfism characterized by dysplastic changes in the spine, epiphyses, and metaphyses and early onset osteoarthropathy. Chondrocytes from affected individuals accumulate an unus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4c224a71611ca2448a3fc9d751a6a3d
https://doi.org/10.1016/s0888-7543(05)80369-6
https://doi.org/10.1016/s0888-7543(05)80369-6
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