{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T19:46:54Z","timestamp":1762458414114},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,11,18]],"date-time":"2004-11-18T00:00:00Z","timestamp":1100736000000},"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":[[2005,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pseudoachondroplasia (PA) is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature, generalized ligamentous laxity, irregular epi\u2010metaphyseal ossification, and vertebral anomalies that regress with age. It usually manifests in the second year of life or later. The clinically and radiographically variable disorder is caused by mutations in the <jats:italic>COMP<\/jats:italic> gene. Parental gonadal mosaicism may lead to recurrence of the disorder in children of unaffected parents. Here, we describe sibs with bone changes similar to those seen in very severe PA born to clinically and radiographically unaffected parents. Sequencing of all 19 exons of the <jats:italic>COMP<\/jats:italic> gene failed to disclose a mutation. The sibs appear to be affected by a disorder resembling PA but resulting from a defect of an extracellular matrix protein other than COMP. It may be suspected in patients with unusually severe dwarfism, severe epi\u2010metaphyseal abnormalities, and persistent platyspondyly. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30350","type":"journal-article","created":{"date-parts":[[2004,11,19]],"date-time":"2004-11-19T01:17:27Z","timestamp":1100827047000},"page":"20-24","source":"Crossref","is-referenced-by-count":5,"title":["A disorder resembling pseudoachondroplasia but without COMP mutation"],"prefix":"10.1002","volume":"132A","author":[{"given":"J.W.","family":"Spranger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Zabel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Kennedy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Briggs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,11,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10066"},{"issue":"1","key":"e_1_2_6_3_1","first-page":"2065","article-title":"Locus homogeneity in pseudoachondroplasia","volume":"67","author":"Cohn DH","year":"2000","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<486::AID-AJMG10>3.0.CO;2-O"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970613)70:3<287::AID-AJMG14>3.0.CO;2-H"},{"issue":"4","key":"e_1_2_6_6_1","first-page":"254","article-title":"Pseudoachondroplastic SED, recessive Maroteaux\u2013Lamy type","author":"Hall J","year":"1969","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280121"},{"key":"e_1_2_6_8_1","first-page":"316","article-title":"Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia","volume":"135","author":"Horton WA","year":"1982","journal-title":"Am J Dis Child"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0845-9"},{"key":"e_1_2_6_10_1","first-page":"135","article-title":"Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia","volume":"22","author":"Maguchi A","year":"2001","journal-title":"Am J Med Genet"},{"key":"e_1_2_6_11_1","first-page":"383","article-title":"Les formes pseudo\u2010achondroplastiques des dysplasies spondylo\u2010\u00e9piphysaires","volume":"67","author":"Maroteaux P","year":"1959","journal-title":"Presse Med"},{"key":"e_1_2_6_12_1","volume-title":"Bone Dysplasias","author":"Spranger J","year":"2002"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02900361"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10234"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.5.425"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30350","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30350","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T19:51:16Z","timestamp":1697658676000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11,18]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,1]]}},"alternative-id":["10.1002\/ajmg.a.30350"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30350","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,11,18]]}}}