{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:23:07Z","timestamp":1791894187821,"version":"4.3.4"},"reference-count":15,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2012,4,1]],"date-time":"2012-04-01T00:00:00Z","timestamp":1333238400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,4,1]],"date-time":"2012-04-01T00:00:00Z","timestamp":1333238400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":474,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2012,4]]},"DOI":"10.1016\/j.ajhg.2012.02.010","type":"journal-article","created":{"date-parts":[[2012,3,22]],"date-time":"2012-03-22T14:04:17Z","timestamp":1332425057000},"page":"685-688","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":119,"title":["Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome"],"prefix":"10.1016","volume":"90","author":[{"given":"Bobby\u00a0G.","family":"Ng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Hackmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie\u00a0A.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexey\u00a0M.","family":"Eroshkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy","family":"Wiliams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shruti","family":"Bhide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Cantagrel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph\u00a0G.","family":"Gleeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy\u00a0S.","family":"Paller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rhonda\u00a0E.","family":"Schnur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigrid","family":"Tinschert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice","family":"Zunich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhuri\u00a0R.","family":"Hegde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hudson\u00a0H.","family":"Freeze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2012.02.010_bib1","series-title":"CHIME syndrome (Zunich syndrome) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes","first-page":"949","author":"Zunich","year":"2008"},{"key":"10.1016\/j.ajhg.2012.02.010_bib2","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.cell.2010.06.001","article-title":"SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder","volume":"142","author":"Cantagrel","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2012.02.010_bib3","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1136\/jmg.32.6.465","article-title":"Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases","volume":"32","author":"Shashi","year":"1995","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2012.02.010_bib4","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1046\/j.1525-1470.2001.018003252.x","article-title":"What syndrome is this? CHIME syndrome","volume":"18","author":"Sidbury","year":"2001","journal-title":"Pediatr. Dermatol."},{"key":"10.1016\/j.ajhg.2012.02.010_bib5","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1111\/j.1525-1470.1996.tb00702.x","article-title":"Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities","volume":"13","author":"Tinschert","year":"1996","journal-title":"Pediatr. Dermatol."},{"key":"10.1016\/j.ajhg.2012.02.010_bib6","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1042\/bj3390185","article-title":"Mammalian PIG-L and its yeast homologue Gpi12p are N-acetylglucosaminylphosphatidylinositol de-N-acetylases essential in glycosylphosphatidylinositol biosynthesis","volume":"339","author":"Watanabe","year":"1999","journal-title":"Biochem. J."},{"key":"10.1016\/j.ajhg.2012.02.010_bib7","series-title":"Essentials of Glycobiology","first-page":"143","article-title":"Glycosylphosphatidylinositol Anchors","author":"Ferguson","year":"2009"},{"key":"10.1016\/j.ajhg.2012.02.010_bib8","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1038\/nm1410","article-title":"Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency","volume":"12","author":"Almeida","year":"2006","journal-title":"Nat. Med."},{"key":"10.1016\/j.ajhg.2012.02.010_bib9","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1136\/jmg.2010.087114","article-title":"Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN","volume":"48","author":"Maydan","year":"2011","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2012.02.010_bib10","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1038\/ng.653","article-title":"Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome","volume":"42","author":"Krawitz","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2012.02.010_bib11","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/0092-8674(93)90250-T","article-title":"Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A\u00a0gene in paroxysmal nocturnal hemoglobinuria","volume":"73","author":"Takeda","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2012.02.010_bib12","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1111\/j.0022-202X.2004.23227.x","article-title":"Epidermal-specific defect of GPI anchor in Pig-a null mice results in Harlequin ichthyosis-like features","volume":"123","author":"Hara-Chikuma","year":"2004","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2012.02.010_bib13","series-title":"Cold Spring Harb Perspect Biol","first-page":"35","article-title":"Golgi glycosylation and human inherited diseases","author":"Freeze","year":"2011"},{"key":"10.1016\/j.ajhg.2012.02.010_bib14","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.gde.2011.02.001","article-title":"Dystroglycanopathies: coming into focus","volume":"21","author":"Godfrey","year":"2011","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.ajhg.2012.02.010_bib15","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<24::AID-AJMG5>3.0.CO;2-V","article-title":"Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome","volume":"72","author":"Schnur","year":"1997","journal-title":"Am. J. Med. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292971200095X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292971200095X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:10:24Z","timestamp":1757574624000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292971200095X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["S000292971200095X"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2012.02.010","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2012,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2012.02.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}