{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T01:42:17Z","timestamp":1777945337423,"version":"3.51.4"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T00:00:00Z","timestamp":1748822400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T00:00:00Z","timestamp":1748822400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    This study reports a skeletal disorder marked by facial dysmorphism and a distinct oro\u2010dental phenotype including premaxillary and gingival overgrowth and hypercementosis. Whole\u2010exome sequencing identified a homozygous missense variant in\n                    <jats:italic>ENPP5<\/jats:italic>\n                    (c.173G&gt;T; p.Gly58Val), affecting a conserved glycine residue predicted to be within a putative active binding site of the ENPP5 protein. In mice, RNA\u2010seq and immunofluorescence confirmed\n                    <jats:italic>Enpp5<\/jats:italic>\n                    expression in functional osteoblasts of the maxilla and mandible, periodontal ligament, odontoblasts, and ameloblasts. RT\u2010qPCR confirmed region\u2010specific expression, with higher\n                    <jats:italic>Enpp5<\/jats:italic>\n                    expression in premaxillary\u2010maxillary bones compared to the tibia, suggesting site\u2010dependent functional roles. This report links, for the first time, a biallelic\n                    <jats:italic>ENPP5<\/jats:italic>\n                    variant to a novel syndrome involving premaxillary development, bone and cementum growth, highlighting the need for further functional and clinical investigation.\n                  <\/jats:p>","DOI":"10.1111\/cge.14779","type":"journal-article","created":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T23:50:31Z","timestamp":1748908231000},"page":"720-725","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis"],"prefix":"10.1111","volume":"108","author":[{"given":"Paulo Marcio","family":"Yamaguti","sequence":"first","affiliation":[{"name":"Department of Dentistry, Laboratory of Oral Histopathology, Faculty of Health Sciences University of Brasilia  Brasilia Brazil"},{"name":"Oral Care Center for Inherited Diseases University Hospital of Brasilia  Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sh\u00e9lida Vasconcelos","family":"Braz","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Clinical Genetics, Faculty of Medicine University of Brasilia  Brasilia Brazil"},{"name":"Federal University of Amazon  Manaus Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey","family":"Asselin","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, UMR1313 INSERM Sant\u00e9 Orale  Montrouge France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9 Ferreira","family":"Leite","sequence":"additional","affiliation":[{"name":"Oral Care Center for Inherited Diseases University Hospital of Brasilia  Brasilia Brazil"},{"name":"Department of Dentistry, Division of Radiology, Faculty of Health Sciences University of Brasilia  Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline Louren\u00e7o","family":"de Lima","sequence":"additional","affiliation":[{"name":"Department of Dentistry, Laboratory of Oral Histopathology, Faculty of Health Sciences University of Brasilia  Brasilia Brazil"},{"name":"Oral Care Center for Inherited Diseases University Hospital of Brasilia  Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel Rocha","family":"de Carvalho","sequence":"additional","affiliation":[{"name":"SARAH Network of Rehabilitation Hospitals  Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heliana Dantas","family":"Mestrinho","sequence":"additional","affiliation":[{"name":"Department of Dentistry, Laboratory of Oral Histopathology, Faculty of Health Sciences University of Brasilia  Brasilia Brazil"},{"name":"Oral Care Center for Inherited Diseases University Hospital of Brasilia  Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulo Tadeu","family":"Figueiredo","sequence":"additional","affiliation":[{"name":"Oral Care Center for Inherited Diseases University Hospital of Brasilia  Brasilia Brazil"},{"name":"Department of Dentistry, Division of Radiology, Faculty of Health Sciences University of Brasilia  Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guilherme","family":"Santos","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Pharmacology University of Bras\u00edlia, Faculty of Health Sciences  Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalia","family":"de Aguiar Montenegro","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Pharmacology University of Bras\u00edlia, Faculty of Health Sciences  Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5315-5565","authenticated-orcid":false,"given":"Nunthawan","family":"Nowwarote","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, UMR1313 INSERM Sant\u00e9 Orale  Montrouge France"},{"name":"Dental Faculty Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4383-7524","authenticated-orcid":false,"given":"Benjamin Philippe Jacques","family":"Fournier","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, UMR1313 INSERM Sant\u00e9 Orale  Montrouge France"},{"name":"Dental Faculty Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"Reference Center of Oral Rare Diseases O\u2010Rares, Rothschild Hospital, Public Assistance\u2010Paris Hospitals  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muriel","family":"de La Dure\u2010Molla","sequence":"additional","affiliation":[{"name":"Dental Faculty Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"Reference Center of Oral Rare Diseases O\u2010Rares, Rothschild Hospital, Public Assistance\u2010Paris Hospitals  Paris France"},{"name":"Reference Center for Skeletal Dysplasia Necker Enfants Malades Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariane","family":"Berdal","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, UMR1313 INSERM Sant\u00e9 Orale  Montrouge France"},{"name":"Dental Faculty Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"Reference Center of Oral Rare Diseases O\u2010Rares, Rothschild Hospital, Public Assistance\u2010Paris Hospitals  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luiz Claudio Gon\u00e7alves","family":"de Castro","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology University of Brasilia, School of Medicine  Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neysa Aparecida Tinoco","family":"Regattieri","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Radiology University of Brasilia, Faculty of Medicine  Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6161-0510","authenticated-orcid":false,"given":"Juliana Forte","family":"Mazzeu","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Clinical Genetics, Faculty of Medicine University of Brasilia  Brasilia Brazil"},{"name":"National Institute of Rare Diseases, in Raras\u2013Brazil University of Brasilia  Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7898-022X","authenticated-orcid":false,"given":"Juliane","family":"Isaac","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, UMR1313 INSERM Sant\u00e9 Orale  Montrouge France"},{"name":"Dental Faculty Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Carolina","family":"Acevedo","sequence":"additional","affiliation":[{"name":"Department of Dentistry, Laboratory of Oral Histopathology, Faculty of Health Sciences University of Brasilia  Brasilia Brazil"},{"name":"Oral Care Center for Inherited Diseases University Hospital of Brasilia  Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,6,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63132"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034514529150"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsb.2020.107597"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.adaj.2024.05.016"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/00220345221074356"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2004.12.007"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbc.2021.101526"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4439(03)00058-9"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/febs.14266"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(03)01454-2"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.006"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517744773"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1221"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1010192"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0038393"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910208101204"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-022-25846-3"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14779","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14779","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14779","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T11:25:21Z","timestamp":1777721121000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14779"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,2]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1111\/cge.14779"],"URL":"https:\/\/doi.org\/10.1111\/cge.14779","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14779\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14779\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14779\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14779\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14779\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14779\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14779\/v3\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14779\/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":[[2025,6,2]]},"assertion":[{"value":"2025-02-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-19","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}