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Clinical Images: Joint calcifications in a patient with a mutation in the COL2A1 gene

✍ Scribed by Boris Hugle; Manuela Krumrey-Langkammerer


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
75 KB
Volume
63
Category
Article
ISSN
0004-3591

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The type II collagenopathies include a wide spectrum of phenotypes ranging from mild spondylo epiphyseal dysplasia (SED) to severe achondrogenesis/hypochondrogenesis. Several attempts have been made at providing phenotype-genotype correlations in this group of disorders. In this report we discuss a