title: Electron microscopy as an aid to diagnosis of disorders of the extracellular matrix: a new type of spondyloepiphyseal dysplasia.
mesh_terms: D000328:Adult; D002357:Cartilage Diseases / Q000235:genetics* / Q000378:metabolism; D003094:Collagen / Q000378:metabolism*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004838:Epiphyses; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008968:Molecular Conformation; D010375:Pedigree; D012867:Skin / Q000378:metabolism / Q000648:ultrastructure*; D013131:Spine; D013577:Syndrome
chemical_list: D003094:Collagen