{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:33:14Z","timestamp":1777937594931,"version":"3.51.4"},"reference-count":6,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2021,12,27]],"date-time":"2021-12-27T00:00:00Z","timestamp":1640563200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:p>Lethal restrictive dermopathy is genodermatoses associated with lamin protein defects resulting in connective tissue abnormalities of skin, musculoskeletal, and adipose tissue. We report one such case with a mutation in the ZMPSTE24 gene which is involved in lamin protein synthesis, resulting in fetal akinesia or hypokinesia deformation sequence. Early recognition in the perinatal period of distinctive clinical and skin histological features followed by molecular diagnosis enabled genetic counseling for the affected family.<\/jats:p>","DOI":"10.1177\/10935266211065316","type":"journal-article","created":{"date-parts":[[2021,12,27]],"date-time":"2021-12-27T21:47:06Z","timestamp":1640641626000},"page":"327-329","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Lethal Restrictive Dermopathy with\n                    <i>ZMPSTE24<\/i>\n                    Mutation"],"prefix":"10.1177","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9652-0179","authenticated-orcid":false,"given":"Immanuel","family":"Pradeep","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, A.I.I.M.S Bibinagar, Hyderabad, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kalpana","family":"Gowrishankar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lakshmi","family":"Shanmugasundaram","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Institute of Reproductive Medicine, Madras Medical Mission, Chennai, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,12,27]]},"reference":[{"key":"bibr1-10935266211065316","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110308"},{"key":"bibr2-10935266211065316","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi159"},{"key":"bibr3-10935266211065316","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh265"},{"key":"bibr4-10935266211065316","doi-asserted-by":"publisher","DOI":"10.1038\/ng871"},{"key":"bibr5-10935266211065316","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0868-x"},{"key":"bibr6-10935266211065316","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1997.10020140.x"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266211065316","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10935266211065316","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266211065316","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:08:24Z","timestamp":1777694904000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10935266211065316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,27]]},"references-count":6,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1177\/10935266211065316"],"URL":"https:\/\/doi.org\/10.1177\/10935266211065316","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,27]]}}}