{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:19:14Z","timestamp":1791296354982,"version":"4.1.0"},"reference-count":26,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5261","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1996,4,26]]},"abstract":"<jats:p>\n            <jats:italic>Hox<\/jats:italic>\n            genes regulate patterning during limb development. It is believed that they function in the determination of the timing and extent of local growth rates. Here, it is demonstrated that synpolydactyly, an inherited human abnormality of the hands and feet, is caused by expansions of a polyalanine stretch in the amino-terminal region of HOXD13. The homozygous phenotype includes the transformation of metacarpal and metatarsal bones to short carpal- and tarsal-like bones. The mutations identify the polyalanine stretch outside of the DNA binding domain of HOXD13 as a region necessary for proper protein function.\n          <\/jats:p>","DOI":"10.1126\/science.272.5261.548","type":"journal-article","created":{"date-parts":[[2006,10,27]],"date-time":"2006-10-27T18:30:41Z","timestamp":1161973841000},"page":"548-551","source":"Crossref","is-referenced-by-count":467,"title":["Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13"],"prefix":"10.1126","volume":"272","author":[{"given":"Yasuteru","family":"Muragaki","sequence":"first","affiliation":[{"name":"Y. Muragaki, S. Mundlos, B. R. Olsen, Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Mundlos","sequence":"additional","affiliation":[{"name":"Y. Muragaki, S. Mundlos, B. R. Olsen, Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Upton","sequence":"additional","affiliation":[{"name":"J. Upton, Department of Surgery, Division of Plastic Surgery, Beth Israel and Children's Hospital, Harvard Medical School, Boston, MA 02115, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bjorn R.","family":"Olsen","sequence":"additional","affiliation":[{"name":"Y. Muragaki, S. Mundlos, B. R. Olsen, Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/376479a0"},{"key":"e_1_2_1_3_2","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/0888-7543(91)90482-T","article-title":"EVX2, A HUMAN HOMEOBOX GENE HOMOLOGOUS TO THE EVEN-SKIPPED SEGMENTATION GENE, IS LOCALIZED AT THE 5\u2032 END OF HOX4 LOCUS ON CHROMOSOME-2","volume":"10","author":"DESPOSITO M","year":"1991","unstructured":"DESPOSITO M, EVX2, A HUMAN HOMEOBOX GENE HOMOLOGOUS TO THE EVEN-SKIPPED SEGMENTATION GENE, IS LOCALIZED AT THE 5\u2032 END OF HOX4 LOCUS ON CHROMOSOME-2, GENOMICS 10, 43 (1991).","journal-title":"GENOMICS"},{"key":"e_1_2_1_4_2","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/0092-8674(93)90378-4","article-title":"DISRUPTION OF THE HOXD-13 GENE INDUCES LOCALIZED HETEROCHRONY LEADING TO MICE WITH NEOTENIC LIMBS","volume":"75","author":"DOLLE P","year":"1993","unstructured":"DOLLE P, DISRUPTION OF THE HOXD-13 GENE INDUCES LOCALIZED HETEROCHRONY LEADING TO MICE WITH NEOTENIC LIMBS, CELL 75, 431 (1993).","journal-title":"CELL"},{"key":"e_1_2_1_5_2","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1242\/dev.1994.Supplement.143","article-title":"DEVELOPMENTAL EXPRESSION OF THE MOUSE EVX-2 GENE - RELATIONSHIP WITH THE EVOLUTION OF THE HOM\/HOX COMPLEX","author":"DOLLE P","year":"1994","unstructured":"DOLLE P, DEVELOPMENTAL EXPRESSION OF THE MOUSE EVX-2 GENE - RELATIONSHIP WITH THE EVOLUTION OF THE HOM\/HOX COMPLEX, DEVELOPMENT: 143 (1994).","journal-title":"DEVELOPMENT"},{"key":"e_1_2_1_6_2","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/0925-4773(91)90067-G","article-title":"THE HOX-4.8 GENE IS LOCALIZED AT THE 5\u2032 EXTREMITY OF THE HOX-4 COMPLEX AND IS EXPRESSED IN THE MOST POSTERIOR PARTS OF THE BODY DURING DEVELOPMENT","volume":"36","author":"DOLLE P","year":"1991","unstructured":"DOLLE P, THE HOX-4.8 GENE IS LOCALIZED AT THE 5\u2032 EXTREMITY OF THE HOX-4 COMPLEX AND IS EXPRESSED IN THE MOST POSTERIOR PARTS OF THE BODY DURING DEVELOPMENT, MECHANISMS OF DEVELOPMENT 36, 3 (1991).","journal-title":"MECHANISMS OF DEVELOPMENT"},{"key":"e_1_2_1_7_2","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/0092-8674(94)90292-5","article-title":"HOMEODOMAIN-DNA RECOGNITION","volume":"78","author":"GEHRING W.J.","year":"1994","unstructured":"GEHRING W.J., HOMEODOMAIN-DNA RECOGNITION, CELL 78, 211 (1994).","journal-title":"CELL"},{"key":"e_1_2_1_8_2","doi-asserted-by":"crossref","first-page":"2723","DOI":"10.1002\/j.1460-2075.1993.tb05934.x","article-title":"FUNCTIONAL DOMAINS OF THE DROSOPHILA ENGRAILED PROTEIN","volume":"12","author":"HAN K.Y.","year":"1993","unstructured":"HAN K.Y., FUNCTIONAL DOMAINS OF THE DROSOPHILA ENGRAILED PROTEIN, EMBO JOURNAL 12, 2723 (1993).","journal-title":"EMBO 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CARTILAGE HOMEOTIC TRANSFORMATION AND CHANGES CELL ADHESIVENESS IN CHICK LIMB BUDS","volume":"9","author":"YOKOUCHI Y","year":"1995","unstructured":"YOKOUCHI Y, MISEXPRESSION OF HOXA-13 INDUCES CARTILAGE HOMEOTIC TRANSFORMATION AND CHANGES CELL ADHESIVENESS IN CHICK LIMB BUDS, GENES & DEVELOPMENT 9, 2509 (1995).","journal-title":"GENES & DEVELOPMENT"},{"key":"e_1_2_1_27_2","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/353443a0","article-title":"HOMEOBOX GENE-EXPRESSION CORRELATED WITH THE BIFURCATION PROCESS OF LIMB CARTILAGE DEVELOPMENT","volume":"353","author":"YOKOUCHI Y","year":"1991","unstructured":"YOKOUCHI Y, HOMEOBOX GENE-EXPRESSION CORRELATED WITH THE BIFURCATION PROCESS OF LIMB CARTILAGE DEVELOPMENT, NATURE 353, 443 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