{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T17:56:02Z","timestamp":1788544562859,"version":"build-2803163510"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T00:00:00Z","timestamp":1694649600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Woodhouse\u2013Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG abnormalities, and dystonia. This condition is caused by the loss of function of the\n                    <jats:italic>DCAF17<\/jats:italic>\n                    gene. Most of the patients have been reported from Greater Middle Eastern countries. We report a 38 male from southern India who presented with syncope and massive hemoptysis due to ruptured bronchopulmonary collaterals. He also had alopecia, cataracts, recently diagnosed diabetes and hypogonadism. Whole exome sequencing showed a novel homozygous truncating variant in the\n                    <jats:italic>DCAF17<\/jats:italic>\n                    gene. Despite embolization of the aortopulmonary collaterals, the patient died of recurrent hemoptysis.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63405","type":"journal-article","created":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T13:23:59Z","timestamp":1694697839000},"page":"100-102","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Woodhouse\u2013Sakati syndrome in an Indian patient with a novel pathogenic variant"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3286-0107","authenticated-orcid":false,"given":"S. Deepak","family":"Amalnath","sequence":"first","affiliation":[{"name":"Department of Medicine Jawaharlal Institute of Postgraduate Medical Education &amp; Research (JIPMER)  India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Jothivanan","sequence":"additional","affiliation":[{"name":"Department of Medicine Jawaharlal Institute of Postgraduate Medical Education &amp; Research (JIPMER)  India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junko","family":"Oshima","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine &amp; Pathology University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian G.","family":"Buchan","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine &amp; Pathology University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Paolucci","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine &amp; Pathology University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-015-0544-7"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A5879"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.018"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62501"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2019.01144"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-02614-8"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3282beb59e"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103687"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01447.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.3.216"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63405","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T02:33:47Z","timestamp":1706495627000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,14]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/ajmg.a.63405"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63405","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,14]]},"assertion":[{"value":"2023-06-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}