{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:44:48Z","timestamp":1791121488726,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,25]],"date-time":"2004-10-25T00:00:00Z","timestamp":1098662400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2005,1]]},"abstract":"Split\u2010hand\/split\u2010foot malformation (SHFM) is a genetically heterogeneous disorder, with five known loci, that causes a lack of median digital rays, syndactyly, and aplasia or hypoplasia of the phalanges, metacarpals, and metatarsals. In the only known SHFM2 family, affected males and homozygous females exhibit monodactyly or bidactyly of the hands and lobster\u2010claw feet. This family (1<\/jats:ext-link>) was revisited to include additional subjects and genealogical data. All 39 affected males and three females fully expressed the SHFM, while 13 carrier females examined exhibited partial expression of SHFM. We narrowed the previously linked 22\u2010Mb genetic interval on Xq24\u2013q26 (2<\/jats:ext-link>), by analyzing additional family members and typing additional markers. The results define a 5.1\u2010Mb region with a new centromeric boundary at DXS1114 and a telomeric boundary at DXS1192. We did not identify mutations in the exons and exon\/intron boundaries of 19 candidate genes. These data suggest that the mutation may lie in a regulatory region of one of these candidate genes or in another gene within the SHFM2<\/jats:italic> region with unclear role in limb development.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2004.00369.x","type":"journal-article","created":{"date-parts":[[2004,12,22]],"date-time":"2004-12-22T10:52:55Z","timestamp":1103712775000},"page":"93-97","source":"Crossref","is-referenced-by-count":51,"title":["Fine mapping of the X\u2010linked split\u2010hand\/split\u2010foot malformation (SHFM2) locus to a 5.1\u2010Mb region on Xq26.3 and analysis of candidate genes"],"prefix":"10.1111","volume":"67","author":[{"given":"M","family":"Faiyaz\u2010Ul\u2010Haque","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SHE","family":"Zaidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LM","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Haque","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Siddique","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u2010C","family":"Tsui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DH","family":"Cohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,12,22]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591081"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00230215"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg090"},{"key":"e_1_2_6_5_2","doi-asserted-by":"crossref","DOI":"10.56021\/9780801857423","volume-title":"Mendelian inheritance in man. A catalog of human genes and genetic disorders","author":"McKusick VA","year":"1998"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/302403"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1345"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.11.2165"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/338921"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1086\/302467"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10778"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg129"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00153.x"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/19539"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2004.00369.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2004.00369.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T09:06:31Z","timestamp":1696928791000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2004.00369.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12,22]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,1]]}},"alternative-id":["10.1111\/j.1399-0004.2004.00369.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2004.00369.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,12,22]]}}}