{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:44:55Z","timestamp":1791121495337,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,3,18]],"date-time":"2005-03-18T00:00:00Z","timestamp":1111104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Previously we have described a novel and distinct form of non\u2010syndromic osseous syndactyly segregating in an autosomal recessive pattern in a consanguineous Pakistani family. The limb findings include mesoaxial reduction of the fingers, synostoses of the third and fourth metacarpals with associated single phalanges, fifth finger clinodactyly, and preaxial webbing of toes. We identified another published report of this phenotype in a large, inbred Turkish family. In the present study we mapped the phenotype in the Pakistani and Turkish families to chromosome 17p13.3 (multipoint LOD score 5.1). The identification of a single locus for this complex limb malformation in two families with distinct ethnic backgrounds supports the hypothesis that this is a distinct form of syndactyly. Since this form of syndactyly is phenotypically distinct from the previously described eight types, we propose to name this phenotype\n                    <jats:styled-content>m<\/jats:styled-content>\n                    esoaxial\n                    <jats:styled-content>s<\/jats:styled-content>\n                    ynostotic\n                    <jats:styled-content>s<\/jats:styled-content>\n                    yn\n                    <jats:styled-content>d<\/jats:styled-content>\n                    actyly with phalangeal reduction (MSSD, type IX syndactyly, Malik\u2013Percin type). \u00a9 2005 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.30656","type":"journal-article","created":{"date-parts":[[2005,3,19]],"date-time":"2005-03-19T07:27:09Z","timestamp":1111217229000},"page":"404-408","source":"Crossref","is-referenced-by-count":21,"title":["Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3"],"prefix":"10.1002","volume":"134A","author":[{"given":"Sajid","family":"Malik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferda E.","family":"Percin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sitki","family":"Percin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurten A.","family":"Akarsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela C.","family":"Koch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl\u2010Heinz","family":"Grzeschik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,3,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/303028"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00438491"},{"key":"e_1_2_6_4_1","first-page":"252","article-title":"Faster sequential genetic linkage computations","volume":"53","author":"Cottingham RW","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10061"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500302"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.11.3443"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20555"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.10.868"},{"key":"e_1_2_6_10_1","volume-title":"Molecular cloning: A laboratory manual","author":"Sambrook J","year":"2001"},{"key":"e_1_2_6_11_1","first-page":"1323","article-title":"Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker\u2010sharing statistics","volume":"58","author":"Sobel E","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_12_1","first-page":"301","volume-title":"The genetics of hand malformations","author":"Temtamy SA","year":"1978"},{"key":"e_1_2_6_13_1","first-page":"50","volume-title":"Handbook of human genetic linkage","author":"Terwilliger JD","year":"1994"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30656","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30656","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T10:51:41Z","timestamp":1697626301000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30656"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3,18]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,5]]}},"alternative-id":["10.1002\/ajmg.a.30656"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30656","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,3,18]]}}}