1. A Heritable Disorder of Connective Tissue
- Author
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Sheldon R. Pinnell, Melvin J. Glimcher, Stephen M. Krane, and John E. Kenzora
- Subjects
musculoskeletal diseases ,Pathology ,medicine.medical_specialty ,Lysyl hydroxylase ,Connective tissue ,Hydroxylation ,Hydroxylysine ,Skin Diseases ,Bone and Bones ,X-Ray Diffraction ,medicine ,Humans ,Joint dislocation ,Amino Acids ,Fascia ,Child ,Amino Acid Metabolism, Inborn Errors ,Skin ,biology ,business.industry ,Lysine ,Collagen Diseases ,General Medicine ,Anatomy ,medicine.disease ,Heritable disorder ,Pedigree ,Hydroxyproline ,Microscopy, Electron ,Severe scoliosis ,Collagen, type I, alpha 1 ,Cartilage ,Hyperextensible skin ,medicine.anatomical_structure ,Hydroxylysine-deficient collagen disease ,Scoliosis ,Solubility ,biology.protein ,Female ,Collagen ,business - Abstract
Two sisters nine and 12 years of age presented with a similar clinical picture consisting of severe scoliosis, recurrent joint dislocation and hyperextensible skin and joints. Amino acid a...
- Published
- 1972