{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,28]],"date-time":"2024-07-28T23:28:15Z","timestamp":1722209295946},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,5,17]],"date-time":"2013-05-17T00:00:00Z","timestamp":1368748800000},"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":[[2013,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>The ZRS (zone of polarizing activity regulatory sequence) is a long\u2010range limb\u2010specific <jats:italic>Sonic Hedgehog<\/jats:italic> (<jats:italic>SHH<\/jats:italic>) enhancer. In humans, the ZRS is located in chromosome 7q36 within intron 5 of <jats:italic>LMBR1<\/jats:italic>; approximately 1\u2009Mb telomeric of <jats:italic>SHH<\/jats:italic>. Point mutations and duplications of the ZRS lead to a variable phenotype of preaxial polydactyly\/triphalangeal thumb, tibial hypoplasia, radial ray deficiency, and type IV familial syndactyly (syndactyly of all digits with polydactyly). The ZRS is conserved among mammals and fish and regulates the expression of <jats:italic>SHH<\/jats:italic>. In mice, the conserved ZRS within the <jats:italic>Lmbr1<\/jats:italic> gene is found in chromosome 5. The Hammertoe (Hm) mouse mutants have a mutation in the <jats:italic>Lmbr1<\/jats:italic> locus and show syndactyly of digits 2\u20135 without polydactyly. No previous reports have described isolated syndactyly without polydactyly to be related to the <jats:italic>LMBR1<\/jats:italic> locus in humans. In this report, we describe a family with simple cutaneous syndactyly involving digits 2\u20135, without polydactyly which is consistent with the phenotype of type III syndactyly. The locus we identified on ch7q36.3 is syntenic to the Hm locus; and affected members of the family had a phenotype analogous to Hm. Hence, the type of syndactyly described in the current report may be equivalent to Hm mice. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35956","type":"journal-article","created":{"date-parts":[[2013,5,17]],"date-time":"2013-05-17T20:19:56Z","timestamp":1368821996000},"page":"1579-1584","source":"Crossref","is-referenced-by-count":7,"title":["Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36"],"prefix":"10.1002","volume":"161","author":[{"given":"Mohammad M.","family":"Al\u2010Qattan","sequence":"first","affiliation":[{"name":"Department of Surgery College of Medicine, King Saud University Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanan E.","family":"Shamseldin","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi 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