{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T18:51:06Z","timestamp":1790535066465,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,30]],"date-time":"2013-04-30T00:00:00Z","timestamp":1367280000000},"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":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type, is a skeletal dysplasia characterized by platyspondyly, delayed epiphyseal ossification, mild metaphyseal abnormalities, short stature, and short and bowed legs, and is caused by mutations in <jats:italic>PAPSS2<\/jats:italic>. In a single Turkish patient also hyperandrogenism was reported. We describe five patients from a Turkish family with SEMD Pakistani type with homozygosity for a nonsense mutation (p.R329X) leading to a stop codon in <jats:italic>PAPSS2<\/jats:italic>. Plasma levels of dehydroepiandrosterone (DHEA) and androstenedione were normal, but DHEA sulfate levels were low in four of the patients. Two patients and a mother had history of pubertal hyperandrogenism. Testosterone level was mildly elevated in one of the female patients, and insulin resistance was not detected in any of the patients. The patients also had precocious costal calcification, small iliac bones, short femoral necks, coxa vara, short halluces and fused vertebral bodies, none of which has been reported previously in this entity. (c) 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35906","type":"journal-article","created":{"date-parts":[[2013,4,30]],"date-time":"2013-04-30T17:13:17Z","timestamp":1367341997000},"page":"1300-1308","source":"Crossref","is-referenced-by-count":21,"title":["Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype"],"prefix":"10.1002","volume":"161","author":[{"given":"Beyhan","family":"T\u00fcys\u00fcz","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics, Cerrahpa\u015fa Medical School Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saliha","family":"Y\u0131lmaz","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Program on Neurogenetics Yale School of Medicine New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ece","family":"G\u00fcl","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Cerrahpa\u015fa Medical School Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Kolb","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Program on Neurogenetics Yale School of Medicine New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaya","family":"Bilguvar","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Program on Neurogenetics Yale School of Medicine New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olcay","family":"Evliyao\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Cerrahpa\u015fa Medical School Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"G\u00fcnel","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Program on Neurogenetics Yale School of Medicine New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,4,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980806)78:5<468::AID-AJMG13>3.0.CO;2-D"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.11.4.9068609"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20020044"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0810489"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20606"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1"},{"key":"e_1_2_6_9_1","first-page":"365","article-title":"Primer3 on the WWW for general users and for biologist programmers","volume":"132","author":"Rozen S","year":"2000","journal-title":"Methods Mol Biol"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/12.4.57R"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-2797(97)00129-4"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21137"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2001-0040"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0400334101"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/2458"}],"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.35906","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35906","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T14:43:17Z","timestamp":1698676997000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35906"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,30]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1002\/ajmg.a.35906"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35906","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,30]]}}}