{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T10:07:04Z","timestamp":1779962824483,"version":"3.53.1"},"reference-count":18,"publisher":"Charles University in Prague, Karolinum Press","issue":"3","license":[{"start":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T00:00:00Z","timestamp":1602115200000},"content-version":"vor","delay-in-days":281,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T00:00:00Z","timestamp":1602115200000},"content-version":"tdm","delay-in-days":281,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["PRIMUS\/17\/MED\/6"],"award-info":[{"award-number":["PRIMUS\/17\/MED\/6"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["RVO VFN 64165"],"award-info":[{"award-number":["RVO VFN 64165"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["Progres Q32"],"award-info":[{"award-number":["Progres Q32"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prague Med. Rep."],"published-print":{"date-parts":[[2020]]},"abstract":"<jats:p>\n                    Dominantly inherited mutations in\n                    <jats:italic>COMP<\/jats:italic>\n                    gene encoding cartilage oligomeric matrix protein may cause two dwarfing skeletal dysplasias, milder multiple epiphyseal dysplasia (MED) and more severe pseudoachondroplasia (PSACH). We studied the phenotype and X-rays of 11 patients from 5 unrelated families with different\n                    <jats:italic>COMP<\/jats:italic>\n                    mutations. Whole exome and\/or Sangers sequencing were used for molecular analyses. Four to ten X-ray images of hands hips, knees or spine were available for each patient for retrospective analyses. Eight patients with MED have mutation c.1220G&gt;A and 3 children with PSACH mutations c.1359C&gt;A, c.1336G&gt;A, or the novel mutation c.1126G&gt;T in\n                    <jats:italic>COMP<\/jats:italic>\n                    . Progressive failure in growth developed in all patients from early childhood and resulted in short stature &lt; 3\n                    <jats:sup>rd<\/jats:sup>\n                    percentile in 7 patients and very short stature &lt; 1\n                    <jats:sup>st<\/jats:sup>\n                    percentile in four. Most patients had joint pain since childhood, severe stiffness in shoulders and elbows but increased mobility in wrists. Six children had bowlegs and two had knock knees. In all patients, X-rays of hands, hips and knees showed progressive, age-dependent skeletal involvement more pronounced in the epiphyses of long rather than short tubular bones. Anterior elongation and biconvex configuration of vertebral bodies were more conspicuous for kids. Six children had correction of knees and two adults had hip replacement. Skeletal and joint impairment in patients with MED and PSACH due to\n                    <jats:italic>COMP<\/jats:italic>\n                    mutation start in early childhood. Although the clinical severity is mutation and age dependent, many symptoms represent a continuous phenotypic spectrum between both diseases. Most patients may benefit from orthopaedic surgeries.\n                  <\/jats:p>","DOI":"10.14712\/23362936.2020.14","type":"journal-article","created":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T05:28:19Z","timestamp":1602134899000},"page":"153-162","source":"Crossref","is-referenced-by-count":4,"title":["Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene"],"prefix":"10.14712","volume":"121","author":[{"given":"Nabil","family":"El-Lababidi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Zik\u00e1nov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Baxov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Noskov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alena","family":"Leisk\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luk\u00e1\u0161","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom\u00e1\u0161","family":"Honz\u00edk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji\u0159\u00ed","family":"Zeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5727","published-online":{"date-parts":[[2020,10,8]]},"reference":[{"key":"23362936.2020.14_1","doi-asserted-by":"crossref","first-page":"164","DOI":"10.5435\/JAAOS-D-13-00173","volume":"23","author":"Anthony","year":"2015","journal-title":"J. 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