{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:23:36Z","timestamp":1792787016521,"version":"4.5.0"},"reference-count":74,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,2,22]],"date-time":"2017-02-22T00:00:00Z","timestamp":1487721600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"College of Medicine Research Center"},{"DOI":"10.13039\/501100011665","name":"Deanship of Scientific Research","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100011665","id-type":"DOI","asserted-by":"crossref"}]},{"name":"King Saud University, Riyadh, Saudi Arabia"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:p>\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">GLI3<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutations are known to be associated with nine syndromes\/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of\n                    <jats:styled-content style=\"fixed-case\">GLI3<\/jats:styled-content>\n                    \u2010related polydactyly are discussed first. This is followed by a detailed review of the genotype\u2013phenotype correlations. Based on our review of the literature and our clinical experiences, we recommend viewing\n                    <jats:styled-content style=\"fixed-case\">GLI3<\/jats:styled-content>\n                    \u2010related syndromes\/conditions as four separate entities; each characterized by a specific pattern of polydactyly. These four entities are: the preaxial polydactyly type\n                    <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>\n                    \u2010Greig\u2010acrocallosal spectrum, postaxial polydactyly types A\/B, Pallister\u2013Hall syndrome (\n                    <jats:styled-content style=\"fixed-case\">PHS<\/jats:styled-content>\n                    ), and oral\u2010facial\u2010digital overlap syndrome. We also provide illustrative clinical examples from our practice including a family with a novel\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">GLI3<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutation causing\n                    <jats:styled-content style=\"fixed-case\">PHS<\/jats:styled-content>\n                    . The review also introduces the term \u2018\n                    <jats:italic>Forme Fruste<\/jats:italic>\n                    \u2019 preaxial polydactyly and gives several conclusions\/recommendations including the recommendation to revise the current criteria for the clinical diagnosis of\n                    <jats:styled-content style=\"fixed-case\">PHS<\/jats:styled-content>\n                    .\n                  <\/jats:p>","DOI":"10.1111\/cge.12952","type":"journal-article","created":{"date-parts":[[2017,2,22]],"date-time":"2017-02-22T03:16:45Z","timestamp":1487733405000},"page":"457-466","source":"Crossref","is-referenced-by-count":57,"title":["<scp>GLI3<\/scp>\n                    \u2010related polydactyly: a review"],"prefix":"10.1111","volume":"92","author":[{"given":"M.M.","family":"Al\u2010Qattan","sequence":"first","affiliation":[{"name":"Department of Surgery, College of Medicine King Saud University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.E.","family":"Shamseldin","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Jeddah Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.A.","family":"Salih","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine King Saud University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Jeddah Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology, College of Medicine Alfaisal University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1197-259"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302557"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21328"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12276"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31419"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.01.003"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2015.00008"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.62"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029181"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsa.2013.03.018"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1830"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/SAP.0b013e318248b67f"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/289295a0"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/1753193413479263"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm156"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.15537\/smj.2015.11.12446"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2774"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000901"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0393-241"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2012.00121"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.9.1129"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq258"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv221"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-012-0109-x"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1086\/429346"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0007471"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.9.1769"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.12.8143"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M113.541219"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35874"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00431.x"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01866.x"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1186\/512881-041-0110-9"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<295::AID-AJMG10>3.0.CO;2-P"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12519-010-0020-7"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.20121"},{"key":"e_1_2_8_38_1","first-page":"20301619","volume-title":"Gene Reviews","author":"Biesecker LG","year":"2001"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20318"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.13"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33495"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.11.804"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101016"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2015.6"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.250"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.826"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003955"},{"key":"e_1_2_8_48_1","first-page":"125","article-title":"Synopsis of hand malformations with particular emphasis on genetic factors","volume":"3","author":"Temtamy SA","year":"1969","journal-title":"Birth Defects"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1177\/1753193407087888"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200982"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2014.03.012"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12139"},{"key":"e_1_2_8_53_1","first-page":"20301638","volume-title":"Gene Reviews","author":"Biesecker LG","year":"2000"},{"key":"e_1_2_8_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M"},{"key":"e_1_2_8_55_1","doi-asserted-by":"publisher","DOI":"10.4103\/0377-4929.94873"},{"key":"e_1_2_8_56_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-008-0870-5"},{"key":"e_1_2_8_57_1","first-page":"1839","article-title":"Pallister\u2010Hall syndrome: clinical and MR features","volume":"20","author":"Kuo JS","year":"1999","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_8_58_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000184972.76657.e1"},{"key":"e_1_2_8_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30818"},{"key":"e_1_2_8_60_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.2.125"},{"key":"e_1_2_8_61_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.8.605"},{"key":"e_1_2_8_62_1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1684\/epd.2011.0440","article-title":"Transcallosal endoscopic resection of hypothalamic hamartoma in a case with Pallister Hall syndrome","volume":"13","author":"Dericioglu N","year":"2011","journal-title":"Epileptic Disord"},{"key":"e_1_2_8_63_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2001)9999:9999<::AID-AJMG1128>3.0.CO;2-S"},{"key":"e_1_2_8_64_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.6.441"},{"key":"e_1_2_8_65_1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1111\/j.1399-0004.1995.tb04090.x","article-title":"Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son. A variant of Pallister\u2010Hall syndrome","volume":"48","author":"Moringlane LM","year":"1995","journal-title":"Clin Genet"},{"key":"e_1_2_8_66_1","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1007\/s00439-002-0892-2","article-title":"Human genetic disease caused by de\u2010novo mitochondrial\u2010nuclear DNA transfer","volume":"112","author":"Turner C","year":"2003","journal-title":"Hum Genet"},{"key":"e_1_2_8_67_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21570"},{"key":"e_1_2_8_68_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.300"},{"key":"e_1_2_8_69_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2007.07.023"},{"key":"e_1_2_8_70_1","doi-asserted-by":"publisher","DOI":"10.1371\/Journal.pone"},{"key":"e_1_2_8_71_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01115"},{"key":"e_1_2_8_72_1","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1242\/dev.126.1.13","article-title":"Gli3 (xt) and formin (ld) participate in the positioning of the polarising region and control of posterior limb\u2010bud identity","volume":"126","author":"Zuniga A","year":"1999","journal-title":"Development"},{"key":"e_1_2_8_73_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2007.03.517"},{"key":"e_1_2_8_74_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms12903"},{"key":"e_1_2_8_75_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0707899105"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12952","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12952","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,15]],"date-time":"2025-06-15T11:33:52Z","timestamp":1749987232000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12952"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,22]]},"references-count":74,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1111\/cge.12952"],"URL":"https:\/\/doi.org\/10.1111\/cge.12952","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,22]]}}}