{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T11:17:06Z","timestamp":1778152626024,"version":"3.51.4"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,7]]},"DOI":"10.7759\/cureus.108419","type":"journal-article","created":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T11:06:58Z","timestamp":1778152018000},"source":"Crossref","is-referenced-by-count":0,"title":["Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G&gt;A Mutation: The Second Case Report Worldwide"],"prefix":"10.7759","author":[{"given":"Zhahid H","family":"Baigh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jibran A","family":"Sheikh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Baleekhudin Mohd O","family":"Dawar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.018","article-title":"Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome","volume":"83","author":"Alazami AM","year":"2008","unstructured":"Alazami AM, Al-Saif A, Al-Semari A, et al.. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet. 2008, 83:684-91. 10.1016\/j.ajhg.2008.10.018","journal-title":"Am J Hum Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.3.216","article-title":"A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities","volume":"20","author":"Woodhouse NJ","year":"1983","unstructured":"Woodhouse NJ, Sakati NA. A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. J Med Genet. 1983, 20:216-9. 10.1136\/jmg.20.3.216","journal-title":"J Med Genet"},{"key":"ref3","article-title":"Woodhouse-Sakati syndrome","author":"Bohlega SA","year":"2016","unstructured":"Bohlega SA, Abusrair A. Woodhouse-Sakati syndrome. GeneReviews\u00ae. Adam MP, Bick S, Mirzaa GM, et al. (ed): University of Washington, Seattle, WA; 2016."},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-02614-8","article-title":"Genetic epidemiology of Woodhouse-Sakati syndrome in the Greater Middle East region and beyond: a systematic review","volume":"18","author":"Kohil A","year":"2023","unstructured":"Kohil A, Abdallah AM, Hussain K, Al-Shafai M. Genetic epidemiology of Woodhouse-Sakati syndrome in the Greater Middle East region and beyond: a systematic review. Orphanet J Rare Dis. 2023, 18:22. 10.1186\/s13023-023-02614-8","journal-title":"Orphanet J Rare Dis"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2006.08.010","article-title":"A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1","volume":"23","author":"Jin J","year":"2006","unstructured":"Jin J, Arias EE, Chen J, Harper JW, Walter JC. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. Mol Cell. 2006, 23:709-21. 10.1016\/j.molcel.2006.08.010","journal-title":"Mol Cell"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2011.09.002","article-title":"A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin","volume":"490","author":"Habib R","year":"2011","unstructured":"Habib R, Basit S, Khan S, Khan MN, Ahmad W. A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. Gene. 2011, 490:26-31. 10.1016\/j.gene.2011.09.002","journal-title":"Gene"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.28540","article-title":"Radiological findings of Woodhouse-Sakati syndrome: cases reported from Saudi Arabia","volume":"14","author":"Alzahrani AM","year":"2022","unstructured":"Alzahrani AM, Alsuwailem LO, Alghoraiby RM, Albadr FB, Alaseri YM. Radiological findings of Woodhouse-Sakati syndrome: cases reported from Saudi Arabia. Cureus. 2022, 14:e28540. 10.7759\/cureus.28540","journal-title":"Cureus"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1155\/crpe\/9913412","article-title":"DCAF17 mutation in Woodhouse-Sakati syndrome: a case report on a novel homozygous variant","volume":"2025","author":"Khalili Dehkordi A","year":"2025","unstructured":"Khalili Dehkordi A, Vakili R. DCAF17 mutation in Woodhouse-Sakati syndrome: a case report on a novel homozygous variant. Case Rep Pediatr. 2025, 2025:9913412. 10.1155\/crpe\/9913412","journal-title":"Case Rep Pediatr"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63405","article-title":"Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant","volume":"194","author":"Amalnath SD","year":"2024","unstructured":"Amalnath SD, Jothivanan, Oshima J, Buchan JG, Paolucci S. Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant. Am J Med Genet A. 2024, 194:100-2. 10.1002\/ajmg.a.63405","journal-title":"Am J Med Genet A"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210\/jcemcr\/luae130","article-title":"Woodhouse-Sakati syndrome: the new genetic variant of DCAF17 in 2 adult sisters","volume":"2","author":"Amosova M","year":"2024","unstructured":"Amosova M, Poluboyarinova I, Fadeev V, Asanov A. Woodhouse-Sakati syndrome: the new genetic variant of DCAF17 in 2 adult sisters. JCEM Case Rep. 2024, 2:luae130. 10.1210\/jcemcr\/luae130","journal-title":"JCEM Case Rep"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01441.x","article-title":"C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients","volume":"78","author":"Alazami AM","year":"2010","unstructured":"Alazami AM, Schneider SA, Bonneau D, et al.. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Clin Genet. 2010, 78:585-90. 10.1111\/j.1399-0004.2010.01441.x","journal-title":"Clin Genet"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3282beb59e","article-title":"Three siblings with Woodhouse-Sakati syndrome in an Indian family","volume":"17","author":"Koshy G","year":"2008","unstructured":"Koshy G, Danda S, Thomas N, Mathews V, Viswanathan V. Three siblings with Woodhouse-Sakati syndrome in an Indian family. Clin Dysmorphol. 2008, 17:57-60. 10.1097\/MCD.0b013e3282beb59e","journal-title":"Clin Dysmorphol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-015-0544-7","article-title":"Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome","volume":"94","author":"Abdulla MC","year":"2015","unstructured":"Abdulla MC, Alazami AM, Alungal J, Koya JM, Musambil M. Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome. J Genet. 2015, 94:489-92. 10.1007\/s12041-015-0544-7","journal-title":"J Genet"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/474436-woodhouse-sakati-syndrome-due-to-the-rare-dcaf17-c3211ga-mutation-the-second-case-report-worldwide","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T11:06:58Z","timestamp":1778152018000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/474436-woodhouse-sakati-syndrome-due-to-the-rare-dcaf17-c3211ga-mutation-the-second-case-report-worldwide"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,7]]},"references-count":13,"URL":"https:\/\/doi.org\/10.7759\/cureus.108419","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2026,5,7]]}}}