{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T17:22:32Z","timestamp":1793467352604,"version":"4.5.0"},"reference-count":13,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2023,12,3]],"date-time":"2023-12-03T00:00:00Z","timestamp":1701561600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:p>Mutations in ARCN1 give rise to a syndromic disorder with rhizomelic short stature with microretrognathia and developmental delay. ARCN1 encodes the delta subunit of the coat protein I complex, which is required for intracellular trafficking of collagen 1 and which may also be involved in the endoplasmic reticulum (ER) stress response. In this paper we describe for the first time the skeletal histological abnormalities in an 18-week-old fetus with an ARCN1 mutation, and we suggest that the skeletal phenotype in ARCN1-related syndrome has more resemblance with ER stress than with a defect in collagen 1 metabolism.<\/jats:p>","DOI":"10.1177\/10935266231213785","type":"journal-article","created":{"date-parts":[[2023,12,3]],"date-time":"2023-12-03T23:21:15Z","timestamp":1701645675000},"page":"176-180","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["The Radiological and Histological Phenotype of Skeletal Abnormalities in Fetal\n                    <i>ARCN1<\/i>\n                    -Related Syndrome"],"prefix":"10.1177","volume":"27","author":[{"given":"Charlotte A.","family":"Houck","sequence":"first","affiliation":[{"name":"Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marije","family":"Koopmans","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7279-4589","authenticated-orcid":false,"given":"Peter G. 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