{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:59:25Z","timestamp":1775307565553,"version":"3.50.1"},"reference-count":0,"publisher":"Necmettin Erbakan University Press","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Synpolydactyly (SPD) is an autosomal dominant congenital limb disorder due to mutations in HOXD13. It is a phenotypically heterogeneous condition characterized by syndactyly of the third finger (F3), fourth finger (F4) and\/or fourth toe (T4), and fifth toe (T5) with variably associated polydactyly. We report on a mother and fetus with SPD. The mother has a novel mutation (c.708_708delC) in the HOXD13 gene that was also seen in the fetus. However, the fetus had congenital omphalocele in addition to SPD that is an association not reported to date. A chromosomal microarray in the fetus was normal. We report a novel mutation in HOXD13 and document co-occurrence of an omphalocele and SPD in a fetus.<\/jats:p>","DOI":"10.1055\/s-0037-1602142","type":"journal-article","created":{"date-parts":[[2017,4,10]],"date-time":"2017-04-10T18:59:47Z","timestamp":1491850787000},"page":"194-197","source":"Crossref","is-referenced-by-count":7,"title":["Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation"],"prefix":"10.53391","volume":"06","author":[{"given":"Periyasamy","family":"Radhakrishnan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shalini","family":"Nayak","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muralidhar","family":"Pai","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Kasturba Medical College, Manipal University, Manipal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anju","family":"Shukla","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katta","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2017,4,10]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0037-1602142.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:28Z","timestamp":1758138328000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0037-1602142"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,10]]},"references-count":0,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2017,8,8]]},"published-print":{"date-parts":[[2017,9]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0037-1602142","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,10]]}}}