{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:35:43Z","timestamp":1791333343416,"version":"4.3.1"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T00:00:00Z","timestamp":1416960000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on a young girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. These features are similar to those reported in individuals with variant forms of orofaciodigital syndrome known as <jats:italic>c<\/jats:italic>ongenital <jats:italic>h<\/jats:italic>eart <jats:italic>d<\/jats:italic>efects, <jats:italic>h<\/jats:italic>amartomas of the <jats:italic>t<\/jats:italic>ongue and <jats:italic>p<\/jats:italic>olysyndactly (CHDHTP: OMIM 217085) [\u00d6rstavik et al., 1992] and orocardiodigital syndrome [Digilio et al., 1996]. Whole exome sequencing revealed that she is a compound heterozygote for a frame shift mutation and a likely pathogenic sequence variant in <jats:italic>WDPCP<\/jats:italic>, a gene that regulates planar cell polarity and ciliogenesis. Results of genotyping in her parents and unaffected siblings were consistent with autosomal recessive inheritance of the mutation and the <jats:italic>WDPCP<\/jats:italic> variant. These results suggest that disruption of planar cell polarity and ciliogenesis may result in this unusual form of orofaciodigital syndrome. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36852","type":"journal-article","created":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T17:46:55Z","timestamp":1417024015000},"page":"421-427","source":"Crossref","is-referenced-by-count":30,"title":["Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity\u2014ciliogenesis gene <i>WDPCP<\/i> in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas"],"prefix":"10.1002","volume":"167","author":[{"given":"Jonathan","family":"Saari","sequence":"first","affiliation":[{"name":"Department of Pediatrics Children's Hospital Colorado University of Colorado Denver Anschutz Medical Campus Aurora Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark A.","family":"Lovell","sequence":"additional","affiliation":[{"name":"Department of Pathology Children's Hospital Colorado University of Colorado Denver Anschutz Medical Campus Aurora Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hung\u2010Chun","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado Denver Anschutz Medical Campus Aurora Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary A.","family":"Bellus","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Hospital Colorado University of Colorado Denver Anschutz Medical Campus Aurora Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,11,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30231"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet\u2013Biedl syndrome: Results of a population survey","volume":"36","author":"Beales PL","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/318794"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530215"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.104.033381"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001720"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.756"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2012.04.006"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb04077.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.5.416"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn356"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32032"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1971.tb00287.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990917)86:3<278::AID-AJMG16>3.0.CO;2-C"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1191184"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30224"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410436"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03129.x"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1520"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.826"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1089\/cmb.1997.4.311"},{"key":"e_1_2_6_23_1","doi-asserted-by":"crossref","unstructured":"Richards CS Bale S Bellissimo DB Das S Grody WW Hegde MR Lyon E Ward BE. & the Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee2008. 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