{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T09:42:00Z","timestamp":1782812520624,"version":"3.54.5"},"reference-count":42,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T00:00:00Z","timestamp":1123459200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Schmid type of metaphyseal chondrodyplasia (MCDS) is characterized by short stature, widened growth plates, and bowing of the long bones. It results from autosomal dominant mutations of <jats:italic>COL10A1<\/jats:italic>, the gene which encodes \u03b11(X) chains of type X collagen. We report the clinical and radiographic findings in 10 patients with MCDS and <jats:italic>COL10A1<\/jats:italic> mutations. Six patients had lower limb deformities, which necessitated orthopedic surgeries in all of them. One patient demonstrated no deformities and normal stature at age 11 years (height \u22121.2 SDS) while the others manifested severe short stature (&lt;\u22123.5 SDS). Radiographs showed metaphyseal changes which were most pronounced at the hips and knees. Five of the identified 10 mutations in <jats:italic>COL10A1<\/jats:italic> were novel. Six mutations resulted in truncation of the NC1 domain while four mutations were single amino\u2010acid substitutions. Our findings suggest that <jats:italic>COL10A1<\/jats:italic> mutations result in a uniform pattern of growth plate abnormalities. However, the clinical variability in severity among affected individuals is greater than previously thought. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30855","type":"journal-article","created":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T19:18:24Z","timestamp":1123528704000},"page":"241-248","source":"Crossref","is-referenced-by-count":49,"title":["Schmid type of metaphyseal chondrodysplasia and <i>COL10A1<\/i> mutations\u2014findings in 10 patients"],"prefix":"10.1002","volume":"137A","author":[{"given":"Outi","family":"M\u00e4kitie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miki","family":"Susic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leanne","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Barclay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis H.","family":"Glorieux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William G.","family":"Cole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,8,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.55.5.331"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00008356"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg054"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9222"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0969-2126(02)00697-4"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610210.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00214187"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1062"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(92)80503-9"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00402-003-0514-z"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.9.4558"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI1976"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.19.13091"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M003361200"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.3.507"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bb.20.060191.001033"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70332-X"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr\/79551075"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1991.tb15852.x"},{"key":"e_1_2_6_22_1","first-page":"1","article-title":"CDC growth charts: United States","volume":"314","author":"Kuczmarski RJ","year":"2000","journal-title":"Adv Data"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.114.3.597"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02387549"},{"key":"e_1_2_6_25_1","doi-asserted-by":"crossref","first-page":"18378","DOI":"10.1016\/S0021-9258(19)81370-4","article-title":"The type X collagen gene. 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