{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T06:22:56Z","timestamp":1777357376598,"version":"3.51.4"},"reference-count":4,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,6,7]],"date-time":"2022-06-07T00:00:00Z","timestamp":1654560000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spondylo\u2010epi\u2010metaphyseal dysplasia Shohat type (SEMDSH, OMIM # 602557) is a rare skeletal dysplasia. Until recently, only eight patients of five families have been reported. The disorder is characterized by severely disproportionate short stature with a short neck, small trunk with abdominal distension, and short lower limbs. Joint laxity and bowed legs are seen. The same homozygous splicing pathogenic variant in the <jats:italic>DDRGK1<\/jats:italic> gene was found in four Iraqi families. Here we report a homozygous missense pathogenic variant in <jats:italic>DDRGK1<\/jats:italic> in two children from unrelated two Moroccan families. The clinical and radiological phenotypes of the affected children were similar to those previously described.<\/jats:p>","DOI":"10.1002\/ajmg.a.62857","type":"journal-article","created":{"date-parts":[[2022,6,7]],"date-time":"2022-06-07T09:58:27Z","timestamp":1654595907000},"page":"2434-2437","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A missense mutation in <scp><i>DDRGK1<\/i><\/scp> gene associated to Shohat\u2010type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2230-7148","authenticated-orcid":false,"given":"Roberto","family":"Franceschi","sequence":"first","affiliation":[{"name":"Pediatric Department S. Chiara General Hospital  Trento Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Iascone","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Maitz","sequence":"additional","affiliation":[{"name":"Genetic Unit Pediatric Clinic, Fondazione MBBM, S. Gerardo Hospital  Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Marchetti","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milena","family":"Mariani","sequence":"additional","affiliation":[{"name":"Pediatric Units ASST Lariana, S.Fermo della Battaglia (CO)  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6187-3727","authenticated-orcid":false,"given":"Angelo","family":"Selicorni","sequence":"additional","affiliation":[{"name":"Pediatric Units ASST Lariana, S.Fermo della Battaglia (CO)  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Soffiati","sequence":"additional","affiliation":[{"name":"Pediatric Department S. Chiara General Hospital  Trento Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelina","family":"Maines","sequence":"additional","affiliation":[{"name":"Pediatric Department S. Chiara General Hospital  Trento Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,6,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI90193"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510307"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61366"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460403"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62857","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62857","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62857","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T06:16:38Z","timestamp":1692857798000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62857"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,7]]},"references-count":4,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1002\/ajmg.a.62857"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62857","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,7]]},"assertion":[{"value":"2022-03-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}