{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T01:37:43Z","timestamp":1760233063077,"version":"build-2065373602"},"reference-count":32,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,12,10]],"date-time":"2022-12-10T00:00:00Z","timestamp":1670630400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Canadian Institutes of Health Research","award":["PJT 180284","2022"],"award-info":[{"award-number":["PJT 180284","2022"]}]},{"name":"Jean-Louis Levesque Foundation","award":["PJT 180284","2022"],"award-info":[{"award-number":["PJT 180284","2022"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pharmaceuticals"],"abstract":"<jats:p>Craniofrontonasal syndrome (CFNS), also known as craniofrontonasal dysplasia, is an X-linked inherited developmental malformation caused by mutations in the ephrin B1 (EFNB1) gene. The main phenotypic features of the syndrome are coronal synostosis, hypertelorism, bifid nasal tip, dry and curly hair, and longitudinal splitting of nails. A 9-year-and-11-month-old girl with CFNS was admitted due to polyuria, polydipsia, fatigue, and abdominal pain. On physical examination, she had the classical phenotypical features of CFNS. Genetic tests revealed a c.429_430insT (p.Gly144TrpfsTer31) heterozygote variant in the EFNB1 coding region. The patient was diagnosed with type 1 diabetes mellitus (T1DM) and autoimmune thyroiditis based on laboratory findings and symptoms. The mother of the patient, who had the same CFNS phenotype and EFNB1 variant, was screened for autoimmune diseases and was also with autoimmune thyroiditis. This is the first report describing the association of CFNS with T1DM and autoimmune thyroiditis in patients with EFNB1 mutation.<\/jats:p>","DOI":"10.3390\/ph15121535","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T01:42:27Z","timestamp":1670809347000},"page":"1535","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are EFNB1 Variants Associated with Autoimmunity?"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0579-1994","authenticated-orcid":false,"given":"Sebla","family":"G\u00fcne\u015f","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Ayd\u0131n Adnan Menderes University, 09100 Ayd\u0131n, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiangping","family":"Wu","sequence":"additional","affiliation":[{"name":"Centre de Recherche, Centre Hospitalier de l\u2019Universit\u00e9 de Montr\u00e9al (CHUM), Montreal, QU H2X 0A9, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2654-3698","authenticated-orcid":false,"given":"Berk","family":"\u00d6zy\u0131lmaz","sequence":"additional","affiliation":[{"name":"Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, 35020 Izmir, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reyhan","family":"Deveci Sevim","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Ayd\u0131n Adnan Menderes University, 09100 Ayd\u0131n, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tolga","family":"\u00dcn\u00fcvar","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Ayd\u0131n Adnan Menderes University, 09100 Ayd\u0131n, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet","family":"An\u0131k","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Ayd\u0131n Adnan Menderes University, 09100 Ayd\u0131n, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,10]]},"reference":[{"key":"ref_1","first-page":"85","article-title":"Craniofrontonasal dysplasia","volume":"15","author":"Cohen","year":"1979","journal-title":"Birth Defects Orig. 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