{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:23:29Z","timestamp":1747146209792,"version":"3.40.5"},"reference-count":18,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,8,20]],"date-time":"2022-08-20T00:00:00Z","timestamp":1660953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rhizomelic chondrodysplasia punctata (RCDP) are a group of peroxisomal disorders caused by plasmalogen synthesis defects. Patients with RCDP present with rhizomelic short stature, characteristic punctate epiphyseal calcifications, congenital cataracts, severe intellectual disability, seizures, and facial dysmorphism. Pathogenic variants in <jats:italic>AGPS<\/jats:italic> result in RCDP type 3 (RCDP3) which is an extremely rare disorder characterized by isolated ADHAPS deficiency. Six patients with RCDP3 have been identified, upto\u2010date. We report two new patients with RCDP3 and their novel variants, c.154dupG (p.Ala52GlyfsTer6) and c.637+1G&gt;A, in the <jats:italic>AGPS<\/jats:italic> gene. We also present a review of previously reported RCDP3 patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.62959","type":"journal-article","created":{"date-parts":[[2022,8,20]],"date-time":"2022-08-20T07:09:42Z","timestamp":1660979382000},"page":"3229-3235","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3\u00a0(RCDP3) with two novel families, and a review of the literature"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2234-3536","authenticated-orcid":false,"given":"Ezgi G\u00f6kp\u0131nar","family":"\u0130li","sequence":"first","affiliation":[{"name":"Genetic Diseases Center Ba\u015fak\u015fehir \u00c7am and Sakura City Hospital  \u0130stanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alper","family":"Gezdirici","sequence":"additional","affiliation":[{"name":"Genetic Diseases Center Ba\u015fak\u015fehir \u00c7am and Sakura City Hospital  \u0130stanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erminia","family":"Di Pietro","sequence":"additional","affiliation":[{"name":"Research Institute of the McGill University Health Center  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Yergeau","sequence":"additional","affiliation":[{"name":"Research Institute of the McGill University Health Center  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Braverman","sequence":"additional","affiliation":[{"name":"Research Institute of the McGill University Health Center  Montreal Quebec Canada"},{"name":"Department of Pediatrics and Human Genetics McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,8,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000205594.34647.d0"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv305"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1432-1327.1999.00295.x"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0497-369"},{"volume-title":"GeneReviews(\u00ae)","year":"1993","author":"Braverman N. 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