{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T09:15:47Z","timestamp":1758273347244},"reference-count":37,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2006,5,10]],"date-time":"2006-05-10T00:00:00Z","timestamp":1147219200000},"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":[[2006,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ectrodactyly with aplasia of long bones syndrome is one of the most recognizable defects involving the extremities. We have studied a very large eight\u2010generation consanguineous Arab family from the United Arab Emirates (UAE) with multiple severe limb anomalies resembling this condition (OMIM; 119100), for which the affected gene is unknown. The pedigree consists of 145 individuals including 23 affected (14 males\/9 females) with limb anomalies. Of these, 18 had tibial aplasia (TA) usually on the right side. The expression of the phenotype was variable and ranged from bilateral to unilateral TA with ectrodactyly and other defects of the extremities. The mode of inheritance appears to be autosomal dominant with reduced penetrance. There were 10 consanguineous marriages observed in this pedigree. This could suggest possible pseudodominance due to high frequency of the mutant allele. Candidate loci for the described syndrome include <jats:italic>GLI3<\/jats:italic> (OMIM: 165240) on 7p13, sonic hedgehog; (OMIM: 600725) on 7q36, Langer\u2013Giedion syndrome (OMIM: 150230) on 8q24.1 and split\u2010hand\/foot malformation 3 (OMIM: 600095) on 10q24. In addition, bilateral tibial hemimelia and unilateral absence of the ulna was previously observed to co\u2010segregate with deletion of 8q24.1. Two\u2010point linkage and haplotype analyses did not show the involvement of the above regions in this family. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31239","type":"journal-article","created":{"date-parts":[[2006,5,10]],"date-time":"2006-05-10T22:34:28Z","timestamp":1147300468000},"page":"1440-1446","source":"Crossref","is-referenced-by-count":18,"title":["Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis"],"prefix":"10.1002","volume":"140A","author":[{"given":"Mohammed","family":"Naveed","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmoud T.","family":"Al\u2010Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabita K.","family":"Murthy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Al\u2010Hajali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najib","family":"Al\u2010Khaja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel","family":"Deutsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Armand","family":"Bottani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Swapan K.","family":"Nath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uppala","family":"Radhakrishna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,5,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00482.x"},{"key":"e_1_2_6_3_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_4_1","first-page":"197","article-title":"Bilateral absence of the tibias in three sibs","volume":"10","author":"Emami\u2010Ahari Z","year":"1974","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200207000-00002"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01202412-199810000-00008"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070313"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.11.896"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80114-2"},{"key":"e_1_2_6_10_1","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1302\/0301-620X.60B1.627576","article-title":"Congenital aplasia and dysplasia of the tibia with intact fibula. 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