{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T12:09:23Z","timestamp":1786450163738,"version":"build-2736575974"},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T00:00:00Z","timestamp":1542758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Initiative on Rare and Undiagnosed Diseases in Pediatrics"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>Cole\u2010Carpenter syndrome is a rare skeletal dysplasia associated with low\u2010bone mass or an osteogenesis imperfecta (OI)\u2010like syndrome. Only 3 and 6 variants in <jats:italic>SEC24D<\/jats:italic> have been reported in patients with Cole\u2010Carpenter syndrome type 2 and autosomal recessive OI, respectively. We describe a 15\u2010year\u2010old Japanese boy with short stature of the short\u2010trunk type and craniofacial abnormalities including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. These features were consistent with a diagnosis of Cole\u2010Carpenter syndrome. He had low\u2010bone mineral density and basilar impression. Whole exome sequencing analysis identified biallelic variants in <jats:italic>SEC24D<\/jats:italic> (p.Arg484* and p.Arg313His) in the patient. We will report a patient with compound heterozygous variants of <jats:italic>SEC24D<\/jats:italic> causing Cole\u2010Carpenter syndrome type 2.<\/jats:p>","DOI":"10.1002\/ajmg.a.40643","type":"journal-article","created":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T16:35:38Z","timestamp":1542818138000},"page":"2882-2886","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Japanese patient with Cole\u2010carpenter syndrome with compound heterozygous variants of <i>SEC24D<\/i>"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3627-1932","authenticated-orcid":false,"given":"Shinji","family":"Takeyari","sequence":"first","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takuo","family":"Kubota","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Miyata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichi","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"},{"name":"Department of Statistical Genetics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Nakayama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"},{"name":"The Japan Environment and Children's Study Osaka Unit Center  Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhisa","family":"Ohata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"},{"name":"The 1st. 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