Familial Short Stature - a Novel Phenotype of Growth Plate Collagenopathies
Familial Short Stature - a Novel Phenotype of Growth Plate Collagenopathies
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Publisher
US: Oxford University Press
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Language
English
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Publisher
US: Oxford University Press
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Contents
Backround: Collagens are the most abundant proteins in the human body. In a growth plate, collagen types II, IX, X and XI are present. Defects in collagen genes cause heterogeneous syndromic disorders frequently associated with asymmetric short stature (e.g. Kniest dysplasia, spondyloepiphyseal dysplasia). Less is known about nonsyndromic collageno...
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Full title
Familial Short Stature - a Novel Phenotype of Growth Plate Collagenopathies
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8090452
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8090452
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ISSN
2472-1972
E-ISSN
2472-1972
DOI
10.1210/jendso/bvab048.1472
