Výsledky vyhledávání - "Ann P. Garber"

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

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

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