{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:57:09Z","timestamp":1791269829662,"version":"4.1.0"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Chanarin-Dorfman syndrome (CDS) is a multisystem, autosomal recessive genetic disorder characterized by congenital non-bullous ichthyosiform erythroderma with accumulation of lipid droplets in granulocytes and basal keratinocytes. An 18-month-old female child presented with typical dermatological features of CDS. She was born as a collodion baby. Liver biopsy showed micronodular cirrhosis along with macrovesicular hepatic steatosis. Sequencing of all exons and exon-intron boundaries of the\n                      <jats:italic toggle=\"yes\">ABHD5<\/jats:italic>\n                      gene showed that the patient was homozygous for a novel mutation g.24947delG (c.773 + 1delG) in intron 5. This is the first Indian child with mutation proven CDS.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0022-3859.138826","type":"journal-article","created":{"date-parts":[[2014,8,14]],"date-time":"2014-08-14T09:42:13Z","timestamp":1408009333000},"page":"332-334","source":"Crossref","is-referenced-by-count":11,"title":["Chanarin-Dorfman syndrome"],"prefix":"10.4103","volume":"60","author":[{"given":"PM","family":"Tamhankar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Iyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Sanghavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U","family":"Khopkar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-21-20240205","doi-asserted-by":"crossref","first-page":"E289","DOI":"10.1152\/ajpendo.00099.2009","article-title":"Neutral lipid storage disease: Genetic disorders caused by mutations in adipose triglyceride lipase\/PNPLA2 or CGI-58\/ABHD5","volume":"297","author":"Schweiger","year":"2009","journal-title":"Am J Physiol Endocrinol Metab"},{"key":"R2-21-20240205","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/humu.10212","article-title":"Human gene mutation database (HGMD): 2003 update","volume":"21","author":"Stenson","year":"2003","journal-title":"Hum Mutat"},{"key":"R3-21-20240205","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"Mutation taster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat Methods"},{"key":"R4-21-20240205","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1182\/blood.V28.2.258.258","article-title":"Jordans' anomaly in white blood cells. Report of case","volume":"28","author":"Rozenszajn","year":"1966","journal-title":"Blood"},{"key":"R5-21-20240205","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1001\/archderm.1974.01630080059017","article-title":"Ichthyosiform dermatosis with systemic lipidosis","volume":"110","author":"Dorfman","year":"1974","journal-title":"Arch Dermatol"},{"key":"R7-21-20240205","doi-asserted-by":"crossref","first-page":"799","DOI":"10.4103\/0377-4929.72098","article-title":"Dorfman-Chanarin syndrome: A rare neutral lipid storage disease","volume":"53","author":"Mitra","year":"2010","journal-title":"Indian J Pathol Microbiol"},{"key":"R8-21-20240205","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1750-1172-5-33","article-title":"Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: First report of large deletions in the ABHD5 gene","volume":"5","author":"Redaelli","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"R9-21-20240205","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1365-2230.2011.04164.x","article-title":"Beneficial effect of acitretin in Chanarin-Dorfman syndrome","volume":"37","author":"Israeli","year":"2012","journal-title":"Clin Exp Dermatol"},{"key":"R10-21-20240205","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.ejmg.2012.01.013","article-title":"Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: A challenge for genotype-phenotype correlation","volume":"55","author":"Aggarwal","year":"2012","journal-title":"Eur J Med Genet"}],"updated-by":[{"DOI":"10.4103\/0022-3859.169758","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000}}],"container-title":["Journal of Postgraduate Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00005257-201460030-00021","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T13:22:17Z","timestamp":1787836937000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00005257-201460030-00029"}},"subtitle":["Clinical report and novel mutation in ABHD5 gene"],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014]]}},"URL":"https:\/\/doi.org\/10.4103\/0022-3859.138826","relation":{},"ISSN":["0022-3859"],"issn-type":[{"value":"0022-3859","type":"print"}],"subject":[],"published":{"date-parts":[[2014]]}}}