{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T22:54:26Z","timestamp":1767135266741,"version":"build-2238731810"},"reference-count":7,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T00:00:00Z","timestamp":1711065600000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Ramon syndrome (OMIM #266270) was first described in a patient with cherubism, gingival fibromatosis, epilepsy, intellectual disability, hypertrichosis, and stunted growth. In 2018, Mehawej et al. described a patient with Ramon syndrome in whom a homozygous variant in\n                    <jats:italic>ELMO2<\/jats:italic>\n                    was identified, suggesting that this gene may be the causative for this syndrome.\n                    <jats:italic>ELMO2<\/jats:italic>\n                    biallelic pathogenic variants were also described in patients with a primary intraosseous vascular malformation (PIVM; OMIM #606893). These patients presented gingival bleeding and cherubism phenotype. Herein, a patient with gingival hypertrophy, neurodevelopmental delay, and cherubism phenotype with a novel homozygous predicted loss\u2010of\u2010function (LOF) variant in the\n                    <jats:italic>ELMO2<\/jats:italic>\n                    gene and family recurrence was reported. A surgical approach to treat gingival bleeding and mandible vascular malformation was also described. Furthermore, this study includes a comprehensive literature review of molecular data regarding the\n                    <jats:italic>ELMO2<\/jats:italic>\n                    gene. All the variants, except one described in the\n                    <jats:italic>ELMO2<\/jats:italic>\n                    , were predicted as LOF, including our patient's variant. There is an overlapping between PIVM, also caused by LOF biallelic variants in the\n                    <jats:italic>ELMO2<\/jats:italic>\n                    gene, and Ramon syndrome, which can suggest that they are not different entities. However, due to a limited number of cases described with molecular evaluation, it is hard to establish a genotype\u2013phenotype correlation. Our study supports that LOF pathogenic biallelic variants in the\n                    <jats:italic>ELMO2<\/jats:italic>\n                    gene cause a phenotype that has cherubism and gingival hypertrophy as main characteristics.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63602","type":"journal-article","created":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T08:10:26Z","timestamp":1711095026000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<i>ELMO2<\/i>\n                    biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1368-2381","authenticated-orcid":false,"given":"Eduardo","family":"Perrone","sequence":"first","affiliation":[{"name":"Hospital Israelita Albert Einstein  S\u00e3o Paulo S\u00e3o Paulo Brazil"},{"name":"Departamento de Morfologia e Gen\u00e9tica Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio Victor Campos","family":"Coelho","sequence":"additional","affiliation":[{"name":"Hospital Israelita Albert Einstein  S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luiza do Amaral","family":"Virmond","sequence":"additional","affiliation":[{"name":"Hospital Israelita Albert Einstein  S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica Grasiela de Araujo","family":"Espolaor","sequence":"additional","affiliation":[{"name":"Hospital Israelita Albert Einstein  S\u00e3o Paulo S\u00e3o Paulo Brazil"},{"name":"Departamento de Morfologia e Gen\u00e9tica Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o Bosco de Oliveira","family":"Filho","sequence":"additional","affiliation":[{"name":"Hospital Israelita Albert Einstein  S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda Thamires Batista do","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Hospital Israelita Albert Einstein  S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina Cadena da","family":"Matta","sequence":"additional","affiliation":[{"name":"Hospital Israelita Albert Einstein  S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9267-404X","authenticated-orcid":false,"given":"Joanna Goes Castro","family":"Meira","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica do Hospital Universit\u00e1rio Professor Edgard Santos (HUPES)  Bahia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"La\u00e9rcio Moreira","family":"Cardoso\u2014J\u00fanior","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Hospital de Cl\u00ednicas de Porto Alegre  Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Camila Mendes","family":"Andrade","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica do Hospital Universit\u00e1rio Professor Edgard Santos (HUPES)  Bahia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo Zantieff Topolski","family":"Chaves","sequence":"additional","affiliation":[{"name":"Disciplina de Cirurgia de Cabe\u00e7a e Pesco\u00e7o do Hospital de Cl\u00ednicas da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana","family":"Amorim","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Refer\u00eancia em Doen\u00e7as Raras APAE, Salvador  Bahia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelina Xavier","family":"Acosta","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica do Hospital Universit\u00e1rio Professor Edgard Santos (HUPES)  Bahia Brazil"},{"name":"Departamento de Pediatria da Faculdade de Medicina da Bahia Universidade Federal da Bahia  Bahia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.008"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24071"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13166"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(67)90416-1"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"}],"updated-by":[{"DOI":"10.1002\/ajmg.a.64055","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2025,3,21]],"date-time":"2025-03-21T00:00:00Z","timestamp":1742515200000}}],"container-title":["American Journal of Medical Genetics Part 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