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Typical metachromatic granules were not seen either in bone\u2010marrow cells or in peripheral blood cells. The X\u2010ray picture showed spondylar and pelvic dysplasias. Qualitative rather than quantitative anomalies were shown in the urinary mucopolysaccharides, mostly involving chondroitin\u20106\u2010sulfate. The genetic data are consistent with autosomal recessive inheritance.<\/jats:p>","DOI":"10.1002\/ajmg.1320020408","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:30:52Z","timestamp":1118511052000},"page":"385-395","source":"Crossref","is-referenced-by-count":35,"title":["Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: A possible error of chondroitin\u20106\u2010sulfate synthesis"],"prefix":"10.1002","volume":"2","author":[{"given":"S. P. 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