{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T08:11:55Z","timestamp":1783930315585,"version":"3.55.0"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,4,4]],"date-time":"2019-04-04T00:00:00Z","timestamp":1554336000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,4,4]],"date-time":"2019-04-04T00:00:00Z","timestamp":1554336000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Wnt and Wnt\u2010associated pathways play an important role in the genetic etiology of oligodontia, a severe form of tooth agenesis. Loss\u2010of\u2010function mutations in LRP6 , encoding a transmembrane cell\u2010surface protein that functions as a coreceptor in the canonical Wnt\/b\u2010catenin signaling cascade, also contribute to genetic oligodontia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>\n                      We describe a three\u2010generation family with hereditary thrombocytopenia and oligodontia. Genome wide array analysis was performed. The array results from the index patient revealed an interstitial loss of 150\u00a0kb in 8p23.1 (chr8:6,270,299\u20136,422,558; hg19) encompassing\n                      <jats:italic>MCPH1<\/jats:italic>\n                      and\n                      <jats:italic>ANGPT2<\/jats:italic>\n                      and an interstitial loss of 290\u00a0kb in 12p13.2 (chr12:12,005,720\u201312,295,290; hg19) encompassing\n                      <jats:italic>ETV6<\/jats:italic>\n                      ,\n                      <jats:italic>BCL2L14<\/jats:italic>\n                      and\n                      <jats:italic>LRP6<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This case report shows a three\u2010generation family with hereditary thrombocytopenia and oligodontia with a heterozygous 290\u00a0kb novel contiguous gene deletion in band p13.2 of chromosome 12, encompassing\n                      <jats:italic>LRP6<\/jats:italic>\n                      and\n                      <jats:italic>ETV6<\/jats:italic>\n                      . In this report we discuss the clinical relevance of the deletion of both genes and illustrate the importance of thorough examination of oligodontia patients. Comprising not only the oral status but also the medical history of the patients and their relatives.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.679","type":"journal-article","created":{"date-parts":[[2019,4,5]],"date-time":"2019-04-05T20:49:13Z","timestamp":1554497353000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three\u2010generation clinical report"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1540-8792","authenticated-orcid":false,"given":"Jamila","family":"Ross","sequence":"first","affiliation":[{"name":"Department of Oral\u2010Maxillofacial Surgery, Prosthodontics and Special Dental Care University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willem","family":"Fennis","sequence":"additional","affiliation":[{"name":"Department of Oral\u2010Maxillofacial Surgery, Prosthodontics and Special Dental Care University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"de Leeuw","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Cune","sequence":"additional","affiliation":[{"name":"Department of Oral\u2010Maxillofacial Surgery, Prosthodontics and Special Dental Care University Medical Center Utrecht Utrecht the Netherlands"},{"name":"Center for Dentistry and Oral Hygiene, Department of Fixed and Removable Prosthodontics and Biomaterials University Medical Center Groningen Groningen the Netherlands"},{"name":"Department of Oral\u2010Maxillofacial Surgery, Prosthodontics and Special Dental Care St. Antonius Hospital Nieuwegein Nieuwegein the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemieke","family":"Willemze","sequence":"additional","affiliation":[{"name":"Department of Hematology University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Department of Oral\u2010Maxillofacial Surgery, Prosthodontics and Special Dental Care University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans\u2010Kristian","family":"Ploos van Amstel","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marijn","family":"Cr\u00e9ton","sequence":"additional","affiliation":[{"name":"Department of Oral\u2010Maxillofacial Surgery, Prosthodontics and Special Dental Care University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Jos\u00e9","family":"van den Boogaard","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,4,4]]},"reference":[{"issue":"4","key":"e_1_2_7_2_1","first-page":"409","article-title":"Patterns of missing teeth in a population of oligodontia patients","volume":"20","author":"Creton M. 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