{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:07:38Z","timestamp":1789949258905,"version":"4.0.1"},"reference-count":57,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,2,27]],"date-time":"2017-02-27T00:00:00Z","timestamp":1488153600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Shanghai Pudong New Area of Science and Technology Development Fund","award":["PKJ2013-Y62"],"award-info":[{"award-number":["PKJ2013-Y62"]}]},{"name":"Shanghai Jiao Tong University School of Medicine Science Fund","award":["13XJ22009"],"award-info":[{"award-number":["13XJ22009"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Developmental Dynamics"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:p><jats:styled-content><jats:bold>Background<\/jats:bold>:<\/jats:styled-content> Polydactyly is a group of congenital limb malformations that show high degree of phenotypic variability and genetic heterogeneity. <jats:bold><jats:styled-content>Results<\/jats:styled-content>:<\/jats:bold> In the present study, four genomic regions (exons of <jats:italic>GLI3, S<\/jats:italic>HH, and noncoding sequences of <jats:italic>preZRS<\/jats:italic> and <jats:italic>ZRS<\/jats:italic>) involved in hedgehog (Hh) signaling pathway were sequenced for 102 unrelated Chinese children with nonsyndromic polydactyly. Two <jats:italic>GLI3<\/jats:italic> variants (c.2844\u2009G\u2009&gt;\u2009G\/A; c.1486C\u2009&gt;\u2009C\/T) and four <jats:italic>preZRS<\/jats:italic> variants (chr7:156585336 A&gt;G; chr7:156585421 C&gt;A; chr7: 156585247\u2009G&gt;C; chr7:156585420 A\u2009&gt;\u2009C) were observed in 2(2.0%) and 6(5.9%) patients, respectively. These variants are not over\u2010represented in the Chinese healthy population. All the 8 cases showed preaxial polydactyly in hands. Additionally, no specific patterns of malformation predicted mutations in other candidate genes or sequences. <jats:bold><jats:styled-content>Conclusions<\/jats:styled-content>:<\/jats:bold> This is the first report of the assessment of the frequency of <jats:italic>GLI3\/SHH\/preZRS\/ZRS<\/jats:italic> in Chinese patients to show any higher possibility of mutations or variants for the 4 genes or sequences in China. <jats:italic>Developmental Dynamics 246:392\u2013402, 2017<\/jats:italic>. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/dvdy.24488","type":"journal-article","created":{"date-parts":[[2017,1,27]],"date-time":"2017-01-27T03:53:34Z","timestamp":1485489214000},"page":"392-402","source":"Crossref","is-referenced-by-count":17,"title":["Mutational screening of <i>GLI3, SHH, preZRS<\/i>, and <i>ZRS<\/i> in 102 Chinese children with nonsyndromic polydactyly"],"prefix":"10.1002","volume":"246","author":[{"given":"Ying","family":"Xiang","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine Shanghai P.R. 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