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A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature Osteoarthritis

Spondyloepiphyseal dysplasia (SED) encompasses a heterogeneous group of disorders characterized by shortening of the trunk and limbs. The autosomal dominant SED type Kimberley (SEDK) is associated with premature degenerative arthropathy and has been previously mapped in a multigenerational family to...

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Sonraí Bibleagrafaíochta
Main Authors: Gleghorn, Lindsay, Ramesar, Rajkumar, Beighton, Peter, Wallis, Gillian
Formáid: Artigo
Teanga:Inglês
Foilsithe: The American Society of Human Genetics 2005
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226213/
https://ncbi.nlm.nih.gov/pubmed/16080123
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