{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T00:06:54Z","timestamp":1773446814085,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,6,9]],"date-time":"2009-06-09T00:00:00Z","timestamp":1244505600000},"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":[[2009,7]]},"abstract":"<jats:p>Preaxial polydactyly is a common limb malformation in humans with variable clinical expression. Different types of triphalangeal thumb\u2010preaxial polydactyly phenotypes were mapped to the chromosome 7q36 region. We studied a large Turkish family of 69 individuals, of whom 22 individuals were affected. In all, 11 affected family members were clinically and radiologically evaluated. All affected individuals had a triphalangeal thumb and a preaxial (hypoplastic) extra digit bilaterally, with minimal intrafamilial variation. No feet involvement was observed. Linkage and haplotype analyses using 20 informative meioses confirmed the 7q36 region contained the <jats:italic>LIMBR1<\/jats:italic> gene. Maximum logarithm of the odds (LOD) scores were obtained with DNA markers D7S550 and D7S2423. We have further identified a novel C to T alteration at position 4909 bp in the critical zone of polarizing activity regulatory sequence (ZRS) region, in the intron 5, of the <jats:italic>LMBR1<\/jats:italic> gene. One affected male with homozygous status and no phenotypic difference from affected family members with heterozygous status represented the first homozygote case of the triphalangeal thumb\u2010preaxial polydactyly phenotype.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2009.01192.x","type":"journal-article","created":{"date-parts":[[2009,6,10]],"date-time":"2009-06-10T03:24:23Z","timestamp":1244604263000},"page":"85-90","source":"Crossref","is-referenced-by-count":30,"title":["Homozygous feature of isolated triphalangeal thumb\u2013preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes"],"prefix":"10.1111","volume":"76","author":[{"given":"CN","family":"Semerci","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Demirkan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"\u00d6zdemir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Biskin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Akin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Bagci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"NA","family":"Akarsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,7,15]]},"reference":[{"issue":"3","key":"e_1_2_5_2_2","first-page":"i","article-title":"The genetics of hand malformations","volume":"14","author":"Temtamy S","year":"1978","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1159\/000472392"},{"key":"e_1_2_5_4_2","first-page":"175","article-title":"The results of surgery for polydactyly of the thumbs","volume":"64","author":"Wassel HD.","year":"1969","journal-title":"Clin Orthop Relat Res"},{"issue":"3","key":"e_1_2_5_5_2","first-page":"182","article-title":"Application of the IFSSH3\u2010Classification for congenital anomalies of the hand; 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