{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T10:29:34Z","timestamp":1787135374999,"version":"build-2736575974"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2013,6,22]],"date-time":"2013-06-22T00:00:00Z","timestamp":1371859200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2013,11]]},"DOI":"10.1007\/s00431-013-2071-y","type":"journal-article","created":{"date-parts":[[2013,6,21]],"date-time":"2013-06-21T11:25:06Z","timestamp":1371813906000},"page":"1467-1473","source":"Crossref","is-referenced-by-count":10,"title":["Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb\u2013polysyndactyly syndrome in a Chinese family and review of the literature"],"prefix":"10.1007","volume":"172","author":[{"given":"Limeng","family":"Dai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Yao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Bai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,6,22]]},"reference":[{"key":"2071_CR1","author":"MM Al-Qattan","year":"2013","unstructured":"Al-Qattan MM (2013) Preaxial polydactyly of the upper limb viewed as a spectrum of severity of embryonic events. Ann Plast Surg. doi: 10.1097\/SAP.0b013e318248b67f","journal-title":"Ann Plast Surg"},{"issue":"10","key":"2071_CR2","doi-asserted-by":"crossref","first-page":"2610","DOI":"10.1002\/ajmg.a.35584","volume":"158A","author":"MM Al-Qattan","year":"2012","unstructured":"Al-Qattan MM, Al Abdulkareem I, Al Haidan Y, Al Balwi M (2012) A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. Am J Med Genet A 158A(10):2610\u20132615. doi: 10.1002\/ajmg.a.35584","journal-title":"Am J Med Genet A"},{"issue":"4","key":"2071_CR3","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1111\/j.1399-0004.2010.01465.x","volume":"79","author":"J Albuisson","year":"2011","unstructured":"Albuisson J, Isidor B, Giraud M, Pichon O, Marsaud T, David A, Le Caignec C, Bezieau S (2011) Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly. Clin Genet 79(4):371\u2013377. doi: 10.1111\/j.1399-0004.2010.01465.x","journal-title":"Clin Genet"},{"issue":"5","key":"2071_CR4","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1002\/(SICI)1096-8628(19991222)87:5<399::AID-AJMG6>3.0.CO;2-A","volume":"87","author":"S Balci","year":"1999","unstructured":"Balci S, Demirtas M, Civelek B, Piskin M, Sensoz O, Akarsu AN (1999) Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36. Am J Med Genet 87(5):399\u2013406. doi: 10.1002\/(SICI)1096-8628(19991222)87:5<399::AID-AJMG6>3.0.CO;2-A","journal-title":"Am J Med Genet"},{"issue":"3","key":"2071_CR5","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1097\/BPB.0b013e32835106b2","volume":"22","author":"TJ Cho","year":"2013","unstructured":"Cho TJ, Baek GH, Lee HR, Moon HJ, Yoo WJ, Choi IH (2013) Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report. J Pediatr Orthop B 22(3):219\u2013221. doi: 10.1097\/BPB.0b013e32835106b2","journal-title":"J Pediatr Orthop B"},{"issue":"6","key":"2071_CR6","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1038\/ejhg.2009.225","volume":"18","author":"M Farooq","year":"2010","unstructured":"Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman S, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW (2010) Preaxial polydactyly\/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS. Eur J Hum Genet 18(6):733\u2013736. doi: 10.1038\/ejhg.2009.225","journal-title":"Eur J Hum Genet"},{"issue":"16","key":"2071_CR7","doi-asserted-by":"crossref","first-page":"2417","DOI":"10.1093\/hmg\/ddn141","volume":"17","author":"D Furniss","year":"2008","unstructured":"Furniss D, Lettice LA, Taylor IB, Critchley PS, Giele H, Hill RE, Wilkie AO (2008) A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb. Hum Mol Genet 17(16):2417\u20132423. doi: 10.1093\/hmg\/ddn141","journal-title":"Hum Mol Genet"},{"issue":"1","key":"2071_CR8","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/ajmg.1320380108","volume":"38","author":"G Gillessen-Kaesbach","year":"1991","unstructured":"Gillessen-Kaesbach G, Majewski F (1991) Bilateral complete polysyndactyly (type IV Haas). Am J Med Genet 38(1):29\u201331. doi: 10.1002\/ajmg.1320380108","journal-title":"Am J Med Genet"},{"issue":"1","key":"2071_CR9","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/ajmg.a.31563","volume":"143","author":"CA Gurnett","year":"2007","unstructured":"Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB (2007) Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly. Am J Med Genet A 143(1):27\u201332. doi: 10.1002\/ajmg.a.31563","journal-title":"Am J Med Genet A"},{"issue":"6","key":"2071_CR10","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1111\/j.1440-169X.2007.00943.x","volume":"49","author":"RE Hill","year":"2007","unstructured":"Hill RE (2007) How to make a zone of polarizing activity: insights into limb development via the abnormality preaxial polydactyly. Dev Growth Differ 49(6):439\u2013448. doi: 10.1111\/j.1440-169X.2007.00943.x","journal-title":"Dev Growth Differ"},{"issue":"6","key":"2071_CR11","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1136\/jmg.2007.055699","volume":"45","author":"E Klopocki","year":"2008","unstructured":"Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K (2008) A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. J Med Genet 45(6):370\u2013375. doi: 10.1136\/jmg.2007.055699","journal-title":"J Med Genet"},{"issue":"7","key":"2071_CR12","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1002\/humu.22097","volume":"33","author":"T Laurell","year":"2012","unstructured":"Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjold A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A (2012) A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS\/LMBR1) causes preaxial polydactyly with triphalangeal thumb. Hum Mutat 33(7):1063\u20131066. doi: 10.1002\/humu.22097","journal-title":"Hum Mutat"},{"issue":"14","key":"2071_CR13","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1093\/hmg\/ddg180","volume":"12","author":"LA Lettice","year":"2003","unstructured":"Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E (2003) A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet 12(14):1725\u20131735","journal-title":"Hum Mol Genet"},{"issue":"11","key":"2071_CR14","doi-asserted-by":"crossref","first-page":"7548","DOI":"10.1073\/pnas.112212199","volume":"99","author":"LA Lettice","year":"2002","unstructured":"Lettice LA, Horikoshi T, Heaney SJ, van Baren MJ, van der Linde HC, Breedveld GJ, Joosse M, Akarsu N, Oostra BA, Endo N, Shibata M, Suzuki M, Takahashi E, Shinka T, Nakahori Y, Ayusawa D, Nakabayashi K, Scherer SW, Heutink P, Hill RE, Noji S (2002) Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci U S A 99(11):7548\u20137553. doi: 10.1073\/pnas.112212199","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"17","key":"2071_CR15","doi-asserted-by":"crossref","first-page":"R754","DOI":"10.1016\/j.cub.2010.06.070","volume":"20","author":"M Levine","year":"2010","unstructured":"Levine M (2010) Transcriptional enhancers in animal development and evolution. Curr Biol 20(17):R754\u2013R763. doi: 10.1016\/j.cub.2010.06.070","journal-title":"Curr Biol"},{"issue":"2","key":"2071_CR16","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/ajmg.1320400204","volume":"40","author":"A Rambaud-Cousson","year":"1991","unstructured":"Rambaud-Cousson A, Dudin AA, Zuaiter AS, Thalji A (1991) Syndactyly type IV\/hexadactyly of feet associated with unilateral absence of the tibia. Am J Med Genet 40(2):144\u2013145. doi: 10.1002\/ajmg.1320400204","journal-title":"Am J Med Genet"},{"issue":"4","key":"2071_CR17","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1242\/dev.01613","volume":"132","author":"T Sagai","year":"2005","unstructured":"Sagai T, Hosoya M, Mizushina Y, Tamura M, Shiroishi T (2005) Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb. Development 132(4):797\u2013803. doi: 10.1242\/dev.01613","journal-title":"Development"},{"issue":"6","key":"2071_CR18","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/s10038-007-0150-5","volume":"52","author":"D Sato","year":"2007","unstructured":"Sato D, Liang D, Wu L, Pan Q, Xia K, Dai H, Wang H, Nishimura G, Yoshiura K, Xia J, Niikawa N (2007) A syndactyly type IV locus maps to 7q36. J Hum Genet 52(6):561\u2013564. doi: 10.1007\/s10038-007-0150-5","journal-title":"J Hum Genet"},{"issue":"1","key":"2071_CR19","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1111\/j.1399-0004.2009.01192.x","volume":"76","author":"CN Semerci","year":"2009","unstructured":"Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA (2009) Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes. Clin Genet 76(1):85\u201390. doi: 10.1111\/j.1399-0004.2009.01192.x","journal-title":"Clin Genet"},{"issue":"2","key":"2071_CR20","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/S0960-9822(99)80022-0","volume":"9","author":"J Sharpe","year":"1999","unstructured":"Sharpe J, Lettice L, Hecksher-Sorensen J, Fox M, Hill R, Krumlauf R (1999) Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch. Curr Biol 9(2):97\u2013100","journal-title":"Curr Biol"},{"issue":"9","key":"2071_CR21","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1136\/jmg.2008.057646","volume":"45","author":"M Sun","year":"2008","unstructured":"Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X (2008) Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. J Med Genet 45(9):589\u2013595. doi: 10.1136\/jmg.2008.057646","journal-title":"J Med Genet"},{"issue":"3","key":"2071_CR22","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1038\/ng0394-282","volume":"6","author":"O Tsukurov","year":"1994","unstructured":"Tsukurov O, Boehmer A, Flynn J, Nicolai JP, Hamel BC, Traill S, Zaleske D, Mankin HJ, Yeon H, Ho C et al (1994) A complex bilateral polysyndactyly disease locus maps to chromosome 7q36. Nat Genet 6(3):282\u2013286. doi: 10.1038\/ng0394-282","journal-title":"Nat Genet"},{"issue":"8","key":"2071_CR23","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1002\/ajmg.a.35473","volume":"158A","author":"JE VanderMeer","year":"2012","unstructured":"VanderMeer JE, Afzal M, Alyas S, Haque S, Ahituv N, Malik S (2012) A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly. Am J Med Genet A 158A(8):2031\u20132035. doi: 10.1002\/ajmg.a.35473","journal-title":"Am J Med Genet A"},{"issue":"5","key":"2071_CR24","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1002\/dvdy.22535","volume":"240","author":"JE VanderMeer","year":"2011","unstructured":"VanderMeer JE, Ahituv N (2011) cis-Regulatory mutations are a genetic cause of human limb malformations. Dev Dyn 240(5):920\u2013930. doi: 10.1002\/dvdy.22535","journal-title":"Dev Dyn"},{"issue":"1","key":"2071_CR25","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/humu.21142","volume":"31","author":"D Wieczorek","year":"2010","unstructured":"Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B (2010) A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. Hum Mutat 31(1):81\u201389. doi: 10.1002\/humu.21142","journal-title":"Hum Mutat"},{"issue":"4","key":"2071_CR26","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1002\/ajmg.a.32740","volume":"149A","author":"L Wu","year":"2009","unstructured":"Wu L, Liang D, Niikawa N, Ma F, Sun M, Pan Q, Long Z, Zhou Z, Yoshiura K, Wang H, Sato D, Nishimura G, Dai H, Zhang X, Xia J (2009) A ZRS duplication causes syndactyly type IV with tibial hypoplasia. Am J Med Genet A 149A(4):816\u2013818. doi: 10.1002\/ajmg.a.32740","journal-title":"Am J Med Genet A"},{"issue":"1","key":"2071_CR27","first-page":"32","volume":"36","author":"J Zguricas","year":"1999","unstructured":"Zguricas J, Heus H, Morales-Peralta E, Breedveld G, Kuyt B, Mumcu EF, Bakker W, Akarsu N, Kay SP, Hovius SE, Heredero-Baute L, Oostra BA, Heutink P (1999) Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36. J Med Genet 36(1):32\u201340","journal-title":"J Med Genet"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-013-2071-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-013-2071-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-013-2071-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T22:22:22Z","timestamp":1559082142000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-013-2071-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,22]]},"references-count":27,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["2071"],"URL":"https:\/\/doi.org\/10.1007\/s00431-013-2071-y","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,22]]}}}