{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T22:53:49Z","timestamp":1790376829299,"version":"4.1.0"},"reference-count":21,"publisher":"Spandidos Publications","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,3]]},"DOI":"10.3892\/mmr.2016.6092","type":"journal-article","created":{"date-parts":[[2016,12,29]],"date-time":"2016-12-29T13:27:51Z","timestamp":1483018071000},"page":"793-797","source":"Crossref","is-referenced-by-count":11,"title":["Microduplication of 7q36.3 encompassing the SHH long-range regulator (ZRS) in a patient with triphalangeal thumb-polysyndactyly syndrome and congenital heart disease"],"prefix":"10.3892","volume":"15","author":[{"given":"Zhenghua","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ni","family":"Yin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lianghui","family":"Gong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiping","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bangliang","family":"Yin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yifeng","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2249","published-online":{"date-parts":[[2016,12,29]]},"reference":[{"key":"key20180108015550_b1-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1038\/ng0394-282","article-title":"A complex bilateral polysyndactyly disease locus maps to chromosome 7q36","volume":"6","author":"Tsukurov","year":"1994","journal-title":"Nat Genet"},{"key":"key20180108015550_b2-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1111\/j.1440-169X.2007.00943.x","article-title":"How to make a zone of polarizing activity: Insights into limb development via the abnormality preaxial polydactyly","volume":"49","author":"Hill","year":"2007","journal-title":"Dev Growth Differ"},{"key":"key20180108015550_b3-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<209::AID-AJMG17>3.0.CO;2-X","article-title":"An autosomal dominant triphalangeal thumb: Polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36","volume":"66","author":"Radhakrishna","year":"1996","journal-title":"Am J Med Genet"},{"key":"key20180108015550_b4-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"7548","DOI":"10.1073\/pnas.112212199","article-title":"Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly","volume":"99","author":"Lettice","year":"2002","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20180108015550_b5-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1093\/hmg\/ddg180","article-title":"A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly","volume":"12","author":"Lettice","year":"2003","journal-title":"Hum Mol Genet"},{"key":"key20180108015550_b6-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s00335-033-2317-5","article-title":"Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog (Shh)","volume":"15","author":"Sagai","year":"2004","journal-title":"Mamm Genome"},{"key":"key20180108015550_b7-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/ajmg.a.31563","article-title":"Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly","volume":"143A","author":"Gurnett","year":"2007","journal-title":"Am J Med Genet A"},{"key":"key20180108015550_b8-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/j.bbrc.2007.01.129","article-title":"A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family","volume":"355","author":"Wang","year":"2007","journal-title":"Biochem Biophys Res Commun"},{"key":"key20180108015550_b9-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"2610","DOI":"10.1002\/ajmg.a.35584","article-title":"A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency","volume":"158A","author":"Al-Qattan","year":"2012","journal-title":"Am J Med Genet A"},{"key":"key20180108015550_b10-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1136\/jmg.2007.055699","article-title":"A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome","volume":"45","author":"Klopocki","year":"2008","journal-title":"J Med Genet"},{"key":"key20180108015550_b11-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1136\/jmg.2008.057646","article-title":"Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer","volume":"45","author":"Sun","year":"2008","journal-title":"J Med Genet"},{"key":"key20180108015550_b12-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"1918","DOI":"10.1002\/ajmg.a.35471","article-title":"Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome","volume":"158A","author":"Luo","year":"2012","journal-title":"Am J Med Genet A"},{"key":"key20180108015550_b13-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/j.1399-0004.2011.01787.x","article-title":"Novel ZFPM2\/FOG2 variants in patients with double outlet right ventricle","volume":"82","author":"Tan","year":"2012","journal-title":"Clin Genet"},{"key":"key20180108015550_b14-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.ygeno.2006.09.005","article-title":"A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud","volume":"89","author":"Masuya","year":"2007","journal-title":"Genomics"},{"key":"key20180108015550_b15-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1038\/nrg2149","article-title":"Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability","volume":"8","author":"Beckmann","year":"2007","journal-title":"Nat Rev Genet"},{"key":"key20180108015550_b16-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/S0960-9822(99)80022-0","article-title":"Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch","volume":"9","author":"Sharpe","year":"1999","journal-title":"Curr Biol"},{"key":"key20180108015550_b17-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1136\/adc.79.4.348","article-title":"A population study of chromosome 22q11 deletions in infancy","volume":"79","author":"Goodship","year":"1998","journal-title":"Arch Dis Child"},{"key":"key20180108015550_b18-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1542\/peds.112.1.101","article-title":"A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population","volume":"112","author":"Botto","year":"2003","journal-title":"Pediatrics"},{"key":"key20180108015550_b19-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/S0140-6736(03)14632-6","article-title":"Role of TBX1 in human del22q11.2 syndrome","volume":"362","author":"Yagi","year":"2003","journal-title":"Lancet"},{"key":"key20180108015550_b20-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/ddrr.2","article-title":"Velo-cardio-facial syndrome: 30 Years of study","volume":"14","author":"Shprintzen","year":"2008","journal-title":"Dev Disabil Res Rev"},{"key":"key20180108015550_b21-mmr-15-02-0793","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1016\/j.amjcard.2010.01.333","article-title":"Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome","volume":"105","author":"Momma","year":"2010","journal-title":"Am J Cardiol"}],"container-title":["Molecular Medicine Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/spandidos-publications.com\/10.3892\/mmr.2016.6092\/download","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,1,8]],"date-time":"2018-01-08T03:53:35Z","timestamp":1515383615000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.spandidos-publications.com\/10.3892\/mmr.2016.6092"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12,29]]},"references-count":21,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2016,12,29]]},"published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.3892\/mmr.2016.6092"],"URL":"https:\/\/doi.org\/10.3892\/mmr.2016.6092","relation":{},"ISSN":["1791-2997","1791-3004"],"issn-type":[{"value":"1791-2997","type":"print"},{"value":"1791-3004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,12,29]]}}}