{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T12:20:24Z","timestamp":1784118024793,"version":"3.55.0"},"reference-count":35,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2021,10,23]],"date-time":"2021-10-23T00:00:00Z","timestamp":1634947200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. Most of the reported GCPS cases are the results of heterozygous loss of function mutations affecting the GLI3 gene (OMIM# 175700), while a small proportion of cases arise from large deletions on chromosome 7p14 encompassing the GLI3 gene. To our knowledge, only 6 patients have been reported to have a deletion with an exact size (given by genomic coordinates) and a gene content larger than 1 Mb involving the GLI3 gene. This report presents a patient with Greig cephalopolysyndactyly contiguous gene syndrome (GCP-CGS) diagnosed with a large, 18 Mb deletion on chromosome 7p14.2-p11.2. Similar cases are reviewed in the literature for a more accurate comparison between genotype and phenotype.<\/jats:p>","DOI":"10.3390\/genes12111674","type":"journal-article","created":{"date-parts":[[2021,10,24]],"date-time":"2021-10-24T22:06:16Z","timestamp":1635113176000},"page":"1674","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review"],"prefix":"10.3390","volume":"12","author":[{"given":"Kinga","family":"Kozma","sequence":"first","affiliation":[{"name":"Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania"},{"name":"Regional Center of Medical Genetics Bihor, 410445 Oradea, Romania"},{"name":"Municipal Clinical Hospital \u201cDr. Gavril Curteanu\u201d, 410469 Oradea, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marius","family":"Bembea","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania"},{"name":"Regional Center of Medical Genetics Bihor, 410445 Oradea, Romania"},{"name":"Municipal Clinical Hospital \u201cDr. Gavril Curteanu\u201d, 410469 Oradea, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia M.","family":"Jurca","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania"},{"name":"Regional Center of Medical Genetics Bihor, 410445 Oradea, Romania"},{"name":"Municipal Clinical Hospital \u201cDr. Gavril Curteanu\u201d, 410469 Oradea, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihai","family":"Ioana","sequence":"additional","affiliation":[{"name":"Regional Center of Medical Genetics Dolj, 200349 Craiova, Romania"},{"name":"Human Genomics Laboratory, Faculty of Medicine, University of Medicine and Pharmacy Craiova, 200642 Craiova, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioana","family":"Strea\u021b\u0103","sequence":"additional","affiliation":[{"name":"Regional Center of Medical Genetics Dolj, 200349 Craiova, Romania"},{"name":"Human Genomics Laboratory, Faculty of Medicine, University of Medicine and Pharmacy Craiova, 200642 Craiova, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona \u015e.","family":"\u015eo\u015foi","sequence":"additional","affiliation":[{"name":"Regional Center of Medical Genetics Dolj, 200349 Craiova, Romania"},{"name":"Human Genomics Laboratory, Faculty of Medicine, University of Medicine and Pharmacy Craiova, 200642 Craiova, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrei","family":"Pirvu","sequence":"additional","affiliation":[{"name":"Regional Center of Medical Genetics Dolj, 200349 Craiova, Romania"},{"name":"Human Genomics Laboratory, Faculty of Medicine, University of Medicine and Pharmacy Craiova, 200642 Craiova, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8442-6791","authenticated-orcid":false,"given":"Codru\u021ba D.","family":"Petchesi","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariana","family":"Szil\u00e1gyi","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania"},{"name":"Municipal Clinical Hospital \u201cDr. Gavril Curteanu\u201d, 410469 Oradea, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6456-5770","authenticated-orcid":false,"given":"Cristian N.","family":"Sava","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania"},{"name":"Municipal Clinical Hospital \u201cDr. Gavril Curteanu\u201d, 410469 Oradea, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandru","family":"Jurca","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anik\u00f3","family":"Ujfalusi","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Faculty of Medicine, Departament of Laboratory Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2836-3383","authenticated-orcid":false,"given":"Zsuzsanna","family":"Sz\u0171cs","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Faculty of Medicine, Departament of Laboratory Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katalin","family":"Szakszon","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Departament of Pediatrics, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,23]]},"reference":[{"key":"ref_1","unstructured":"Adam, M.P., Ardinger, H.H., and Pagon, R.A. 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