{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:38:04Z","timestamp":1791326284769,"version":"4.3.1"},"reference-count":11,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,8,2]],"date-time":"2016-08-02T00:00:00Z","timestamp":1470096000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Rocket Fund","award":["R01-DK099551"],"award-info":[{"award-number":["R01-DK099551"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Increasing numbers of congenital disorders of glycosylation (CDG) have been reported recently resulting in an expansion of the phenotypes associated with this group of disorders. <jats:italic>SRD5A3<\/jats:italic> codes for polyprenol reductase which converts polyprenol to dolichol. This is a major pathway for dolichol biosynthesis for N\u2010glycosylation, O\u2010mannosylation, C\u2010mannosylation, and GPI anchor synthesis. We present the features of five individuals (three children and two adults) with mutations in <jats:italic>SRD5A3<\/jats:italic> focusing on the variable eye and skin involvement. We compare that to 13 affected individuals from the literature including five adults allowing us to delineate the features that may develop over time with this disorder including kyphosis, retinitis pigmentosa, and cataracts. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37875","type":"journal-article","created":{"date-parts":[[2016,8,3]],"date-time":"2016-08-03T12:31:55Z","timestamp":1470227515000},"page":"3165-3171","source":"Crossref","is-referenced-by-count":35,"title":["SRD5A3\u2010CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features"],"prefix":"10.1002","volume":"170","author":[{"given":"Patricia G.","family":"Wheeler","sequence":"first","affiliation":[{"name":"Nemours Children's Clinic Orlando Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bobby G.","family":"Ng","sequence":"additional","affiliation":[{"name":"Human Genetics Program Sanford\u2010Burnham Prebys Medical Discovery Institute La Jolla California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Sanford","sequence":"additional","affiliation":[{"name":"Nemours Children's Clinic Orlando Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. Reid","family":"Sutton","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine and Texas Children's Hospital Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis W.","family":"Bartholomew","sequence":"additional","affiliation":[{"name":"Section of Molecular and Human Genetics, Nationwide Children's Hospital, Department of Pediatrics Ohio State University Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew T.","family":"Pastore","sequence":"additional","affiliation":[{"name":"Section of Molecular and Human Genetics, Nationwide Children's Hospital, Department of Pediatrics Ohio State University Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Bamshad","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington Center for Mendelian Genomics University of Washington Seattle Washington"},{"name":"Department of Pediatrics University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Kircher","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kati J.","family":"Buckingham","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A.","family":"Nickerson","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington Center for Mendelian Genomics University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jay","family":"Shendure","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington Center for Mendelian Genomics University of Washington Seattle Washington"},{"name":"Howard Hughes Medical Institute University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hudson H.","family":"Freeze","sequence":"additional","affiliation":[{"name":"Human Genetics Program Sanford\u2010Burnham Prebys Medical Discovery Institute La Jolla California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,8,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32114"},{"key":"e_1_2_5_3_1","first-page":"313","article-title":"A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations","volume":"32","author":"Assam B","year":"2001","journal-title":"Neuroped"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9760-1"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.06.001"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2009.01.013"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-neuro-071714-034019"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.12.017"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.159"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-10"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2011.12.011"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1015628810892"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37875","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37875","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37875","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:41:09Z","timestamp":1696642869000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37875"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,2]]},"references-count":11,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1002\/ajmg.a.37875"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37875","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,2]]}}}