{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T17:39:12Z","timestamp":1792172352679,"version":"4.4.0"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T00:00:00Z","timestamp":1583798400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Variants in transcriptional activator Gli Kruppel Family Member 3 (\n                    <jats:styled-content style=\"fixed-case\">\n                      <jats:italic>GLI3<\/jats:italic>\n                    <\/jats:styled-content>\n                    ) have been reported to be associated with several phenotypes including Greig cephalopolysyndactyly syndrome (MIM #175700), Pallister\u2010Hall syndrome (PHS) (MIM #146510), postaxial polydactyly types A1 (PAPA1) and B (PAPB) (MIM #174200), and preaxial polydactyly type 4 (MIM #174700). All these disorders follow an autosomal dominant pattern of inheritance. Hypothalamic hamartomas (MIM 241800) is associated with somatic variants in\n                    <jats:styled-content style=\"fixed-case\">\n                      <jats:italic>GLI3<\/jats:italic>\n                    <\/jats:styled-content>\n                    . We report a related couple with parents having PAPA1 and PAPB, who had a fetus with a phenotype most compatible with PHS. Molecular analyses demonstrated homozygosity for a pathogenic\n                    <jats:styled-content style=\"fixed-case\">\n                      <jats:italic>GLI3<\/jats:italic>\n                    <\/jats:styled-content>\n                    variant (c.1927C\u2009&gt;\u2009T; p. Arg643*) in the fetus and heterozygosity in the parents. The genetic analysis in this family demonstrates that heterozygosity and homozygosity for the same\n                    <jats:styled-content style=\"fixed-case\">\n                      <jats:italic>GLI3<\/jats:italic>\n                    <\/jats:styled-content>\n                    variant can cause a different phenotype. Furthermore, the occurrence of Pallister\u2010Hall\u2010like syndrome in a homozygous patient should be taken into account in genetic counseling of families with PAPA1\/PAPB.\n                  <\/jats:p>","DOI":"10.1111\/cge.13730","type":"journal-article","created":{"date-parts":[[2020,2,29]],"date-time":"2020-02-29T03:07:08Z","timestamp":1582945628000},"page":"915-919","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A\n                    <scp>\n                      <i>GLI3<\/i>\n                    <\/scp>\n                    variant leading to polydactyly in heterozygotes and Pallister\u2010Hall\u2010like syndrome in a homozygote"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8467-4728","authenticated-orcid":false,"given":"Ariana","family":"Kariminejad","sequence":"first","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siavash","family":"Ghaderi\u2010Sohi","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elham","family":"Keshavarz","sequence":"additional","affiliation":[{"name":"Department of Radiology, Mahdieh Hospital Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyed Abolghasem","family":"Hashemi","sequence":"additional","affiliation":[{"name":"Parsian Hospital  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elham","family":"Parsimehr","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Szenker\u2010Ravi","sequence":"additional","affiliation":[{"name":"Institute of Medical Biology Agency for Science, Technology, and Research  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muznah","family":"Khatoo","sequence":"additional","affiliation":[{"name":"Institute of Medical Biology Agency for Science, Technology, and Research  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehrshid","family":"Faraji Zonooz","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Reversade","sequence":"additional","affiliation":[{"name":"Institute of Medical Biology Agency for Science, Technology, and Research  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein","family":"Najmabadi","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Amsterdam UMC  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,3,10]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010053"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330416"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330417"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1085-7"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01803.x"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb02294.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.8.605"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21328"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.6.441"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12952"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.20121"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/302557"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2014.03.012"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12139"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.9.1129"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-019-04267-x"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13730","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13730","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13730","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13730","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T03:45:45Z","timestamp":1741751145000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13730"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,10]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,6]]}},"alternative-id":["10.1111\/cge.13730"],"URL":"https:\/\/doi.org\/10.1111\/cge.13730","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13730\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13730\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13730\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13730\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13730\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13730\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,10]]},"assertion":[{"value":"2020-01-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}