The mild form of pseudoachondroplasia
- 1 May 1980
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 133 (3) , 227-231
- https://doi.org/10.1007/bf00496081
Abstract
A 9-year-old boy from an incestuous union presented with mild clinical and roentgenological manifestations of pseudoachondroplasia. Tibial growth cartilage was obtained during a routine orthopedic procedure. Microscopic, histochemical and biochemical analysis showed changes identical to those of 6 sporadic cases of typical pseudoachondroplasia. The results support a concept of pathogenetic homogeneity of pseudoachondroplasia.This publication has 7 references indexed in Scilit:
- Gel Electrophoretic Studies on Proteoglycans and Collagen of Abnormal Human Growth Cartilage: Proteoglycan Abnormalities in Pseudoachondroplasia and in Kniest's DiseasePediatric Research, 1975
- Extraction and purification of proteoglycans from various types of connective tissueBiochimica et Biophysica Acta (BBA) - General Subjects, 1974
- Pseudoachondroplastic DwarfismJournal of Bone and Joint Surgery, 1973
- Structural studies on cartilage collagen employing limited cleavage and solubilization with pepsinBiochemistry, 1972
- Gel electrophoresis of proteoglycans and glycosaminoglycans on large-pore composite polyacrylamide-agarose gelsAnalytical Biochemistry, 1971
- Proteinpolysaccharide Complex from Bovine Nasal CartilagePublished by Elsevier ,1969
- Characterization of Chick Bone Collagen and Compositional Changes Associated with MaturationJournal of Biological Chemistry, 1967