{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T13:21:28Z","timestamp":1788873688142,"version":"build-2803163510"},"reference-count":28,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2003,10]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> The Schmid type of metaphyseal chondrodysplasia (MCDS) is generally due to mutations in <jats:italic>COL10A1<\/jats:italic> encoding for type X collagen of cartilage.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> We performed a study on the genes coding for the RNA components of RNase MRP <jats:italic>(MRPR)<\/jats:italic> and RNase P <jats:italic>(H1RNA)<\/jats:italic> among 20 patients with diagnosis of MCDS and no mutations in <jats:italic>COL10A1<\/jats:italic>.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> Two patients were found to be homozygous for a base substitution G for A at nucleotide 70 of <jats:italic>RMRP<\/jats:italic>, which is the major mutation causing cartilage\u2013hair hypoplasia. No pathogenic mutations were detected in <jats:italic>H1RNA<\/jats:italic>.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusion:<\/jats:bold> Cartilage\u2013hair hypoplasia diagnosis should be considered in patients with metaphyseal chondrodysplasia even in the absence of any extra-skeletal manifestations if no mutation in <jats:italic>COL10A1<\/jats:italic> can be found and the family history is compatible with autosomal recessive inheritance. Correct diagnosis is important for genetic counselling and for proper follow up of the patients.<\/jats:p>","DOI":"10.1136\/jmg.40.10.741","type":"journal-article","created":{"date-parts":[[2003,10,20]],"date-time":"2003-10-20T15:35:54Z","timestamp":1066664154000},"page":"741-746","source":"Crossref","is-referenced-by-count":19,"title":["Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia"],"prefix":"10.1136","volume":"40","author":[{"given":"M","family":"Ridanp\u00e4\u00e4","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L 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