{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,23]],"date-time":"2026-05-23T05:07:54Z","timestamp":1779512874626,"version":"3.53.1"},"reference-count":28,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T00:00:00Z","timestamp":1776902400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T00:00:00Z","timestamp":1776902400000},"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;amp; Gen Med"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Craniofrontonasal syndrome displays an unusual X\u2010linked dominant inheritance pattern due to pathogenic variants in\n                      <jats:italic>EFNB1<\/jats:italic>\n                      , which encodes a membrane\u2010bound ligand for the ephrin receptor. Females exhibit a more severe phenotype than males and can have craniosynostosis, hypertelorism, craniofacial asymmetry, thoracic skeleton abnormalities, and an assortment of other features. Males typically only develop a milder hypertelorism, or they have no discernable features at all.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Exome sequencing was used to identify a likely pathogenic\n                      <jats:italic>EFNB1<\/jats:italic>\n                      c.129\u20102A&gt;G splice site variant in an individual who had facial dysmorphology.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We describe a 14\u2010year\u2010old female from an underserved Caribbean population who had facial dysmorphology, microcephaly, and mild intellectual disability. She also had an uncorrected craniosynostosis that was diagnosed during clinical examination.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The craniofrontonasal syndrome in the individual presented in this report is explained by the\n                      <jats:italic>EFNB1<\/jats:italic>\n                      variant. The affected individual did not have surgical correction of her craniosynostosis, which might have contributed to her development of microcephaly and mild intellectual disability.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70216","type":"journal-article","created":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T05:09:59Z","timestamp":1777007399000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Neurodevelopmental Course in a Case of\n                    <scp>\n                      <i>EFNB1<\/i>\n                    <\/scp>\n                    \u2010Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis"],"prefix":"10.1002","volume":"14","author":[{"given":"Dominique L.","family":"Assing","sequence":"first","affiliation":[{"name":"Department of Biochemistry St George's University School of Medicine  Grenada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle E.","family":"Jolly","sequence":"additional","affiliation":[{"name":"AU\/UGA Medical Partnership of the Medical College of Georgia University of Georgia Health Sciences Campus  Athens Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Gluschitz","sequence":"additional","affiliation":[{"name":"Department of Anatomical Sciences St. George's University School of Medicine  Grenada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly","family":"Nelson","sequence":"additional","affiliation":[{"name":"Children's Health Organization Relief and Educational Services Grenada  Grenada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Li","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, the Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics University of Pennsylvania Perelman School of Medicine  Philadelphia Pennsylvania USA"},{"name":"Center for Applied Genomics, the Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5748-3507","authenticated-orcid":false,"given":"Elizabeth J.","family":"Bhoj","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, the Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics University of Pennsylvania Perelman School of Medicine  Philadelphia Pennsylvania USA"},{"name":"Center for Applied Genomics, the Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7300-9311","authenticated-orcid":false,"given":"Tomoki T.","family":"Nomakuchi","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, the Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Center for Applied Genomics, the Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9251-2614","authenticated-orcid":false,"given":"Andrew K.","family":"Sobering","sequence":"additional","affiliation":[{"name":"Department of Biochemistry St George's University School of Medicine  Grenada"},{"name":"AU\/UGA Medical Partnership of the Medical College of Georgia University of Georgia Health Sciences Campus  Athens Georgia USA"},{"name":"Windward Islands Research and Education Foundation, True Blue  St. George's Grenada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,23]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61506"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.5152\/TurkArchPediatr.2025.24336"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01914-1"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1963210"},{"issue":"5","key":"e_1_2_11_6_1","first-page":"85","article-title":"Craniogrontonasal Dysplasia","volume":"15","author":"Cohen M. 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