{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:42:17Z","timestamp":1787240537272,"version":"build-2736575974"},"reference-count":19,"publisher":"Wiley","issue":"24","license":[{"start":{"date-parts":[[2008,11,12]],"date-time":"2008-11-12T00:00:00Z","timestamp":1226448000000},"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":[[2008,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    VACTERL acronym is assigned to a non\u2010random association of malformations in humans with poorly known etiology. It is comprised of vertebral defects (V), anal atresia (A), cardiac anomaly (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R) and limb lesions (L). Here, we report on, for the first time, a female patient with VACTERL association with a 21 base\u2010pair deletion in the exon 1 triplet repeats of\n                    <jats:italic>HOXD13,<\/jats:italic>\n                    a sonic hedgehog (SHH) downstream target. Our data provide the first piece of clinical evidence of the implication of the SHH pathway in VACTERL. Moreover,\n                    <jats:italic>HOXD13<\/jats:italic>\n                    may not only be implicated in limb malformations but also in the development of gut and genitourinary structures, as predicted from the mouse models. \u00a9 2008 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.32426","type":"journal-article","created":{"date-parts":[[2008,11,12]],"date-time":"2008-11-12T21:39:22Z","timestamp":1226525962000},"page":"3181-3185","source":"Crossref","is-referenced-by-count":72,"title":["Identification of a\n                    <i>HOXD13<\/i>\n                    mutation in a VACTERL patient"],"prefix":"10.1002","volume":"146A","author":[{"given":"Maria\u2010Merc\u00e8","family":"Garcia\u2010Barcel\u00f3","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth Kak\u2010yuen","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent Chi\u2010hang","family":"Lui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen\u2010wei","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Man\u2010ting","family":"So","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elly Sau\u2010wai","family":"Ngan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao\u2010ping","family":"Miao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick 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