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Though the pattern of transmission of the disease is consistent with X\u2010linked recessive inheritance, this form of ichthyosis was found to segregate independently of genetic polymorphisms detected by probes of the region Xp22.3, where the STS locus has been mapped. The search for close genetic linkages with other polymorphic markers scattered along the entire X chromosome has so far been fruitless. For the time being, the main conclusion derived from these data is that STS deficiency is not a sine qua non for X\u2010linked ichthyosis which may also result from a mutational event at an X\u2010chromosomal site genetically unlinked to the STS locus. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590205","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:12:23Z","timestamp":1118513543000},"page":"143-148","source":"Crossref","is-referenced-by-count":12,"title":["X\u2010linked ichthyosis without STS deficiency: Clinical, genetical, and molecular studies"],"prefix":"10.1002","volume":"59","author":[{"given":"Renato","family":"Robledo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Melis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Schillinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ida","family":"Casciano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"Balazs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoniettina","family":"Rinaldi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcello","family":"Siniscalco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgio","family":"Filippi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90311-X"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210812"},{"key":"e_1_2_1_4_1","first-page":"483","article-title":"Identification of point mutations in the steroid sulfatase gene of three patients with X\u2010linked ichthyosis","volume":"50","author":"Basler E","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133183"},{"key":"e_1_2_1_6_1","first-page":"564","article-title":"Linkage studies on X\u2010linked ichthyosis in Sardinia","volume":"20","author":"Filippi G","year":"1968","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.1.423"},{"key":"e_1_2_1_8_1","unstructured":"KoppeJG RijkenY JobsisAC Marinkovic\u2010IlsenA(1977):X\u2010linked ichthyosis a sulfatase deficiency. Vth Intern Birth Defects Conf Montreal."},{"key":"e_1_2_1_9_1","first-page":"440","article-title":"Secondary male hypogonadism and congential ichthyosis: Association of two rare genetic diseases","volume":"12","author":"Lynch HT","year":"1960","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","first-page":"A228","article-title":"A splice junction mutation in a patient with X\u2010linked ichthyosis and steroid sulfatase deficiency","volume":"47","author":"Martin ES","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1994"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)90005-3"},{"key":"e_1_2_1_13_1","first-page":"103","volume-title":"Human Genetics, Part A: The Unfolding Genome","author":"Siniscalco M","year":"1982"},{"key":"e_1_2_1_14_1","first-page":"388","article-title":"Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction","volume":"44","author":"Weber JL","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5493.947"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133727"},{"key":"e_1_2_1_17_1","first-page":"A83","article-title":"X\u2010linked inheritance of Rud syndrome","volume":"37","author":"Wisniewski K","year":"1985","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320590205","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320590205","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T02:30:41Z","timestamp":1698373841000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320590205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,11,6]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,11,6]]}},"alternative-id":["10.1002\/ajmg.1320590205"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320590205","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,11,6]]}}}