{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T23:58:09Z","timestamp":1790380689285,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,5,5]],"date-time":"2016-05-05T00:00:00Z","timestamp":1462406400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Neonatal diabetes and hypothyroidism (NDH) syndrome was first described in 2003 in a consanguineous Saudi Arabian family where two out of four siblings were reported to have presented with proportionate IUGR, neonatal non\u2010autoimmune diabetes mellitus, severe congenital hypothyroidism, cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was characterized by enlarged kidneys and multiple small cysts with deficient cortico\u2010medullary junction differentiation and normal kidney function. There was minor facial dysmorphism (depressed nasal bridge, large anterior fontanelle, long philtrum) reported but no facial photographs were published. Mutations in the transcription factor GLI\u2010similar 3 (<jats:italic>GLIS3<\/jats:italic>) gene in the original family and two other families were subsequently reported in 2006. All affected individuals had neonatal diabetes, congenital hypothyroidism but glaucoma and liver and kidney involvement were less consistent features. Detailed descriptions of the facial dysmorphism have not been reported previously. In this report, we describe the common facial dysmorphism consisting of bilateral low\u2010set ears, depressed nasal bridge with overhanging columella, elongated, upslanted palpebral fissures, persistent long philtrum with a thin vermilion border of the upper lip in a cohort of seven patients with <jats:italic>GLIS3<\/jats:italic> mutations and report the emergence of a distinct, probably recognizable facial gestalt in this group which evolves with age. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37680","type":"journal-article","created":{"date-parts":[[2016,5,5]],"date-time":"2016-05-05T13:21:27Z","timestamp":1462454487000},"page":"1918-1923","source":"Crossref","is-referenced-by-count":23,"title":["An emerging, recognizable facial phenotype in association with mutations in GLI\u2010similar 3 (<i>GLIS3<\/i>)"],"prefix":"10.1002","volume":"170","author":[{"given":"Paul","family":"Dimitri","sequence":"first","affiliation":[{"name":"Department of Paediatric Endocrinology Sheffield Children's NHS Foundation Trust United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"De Franco","sequence":"additional","affiliation":[{"name":"Institute of Biomedical and Clinical Science University of Exeter Medical School United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelhadi M.","family":"Habeb","sequence":"additional","affiliation":[{"name":"Paediatric Department Prince Mohamed Bin Abdulaziz Hospital, NGHA, Al\u2010Madina, NGHA Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatih","family":"Gurbuz","sequence":"additional","affiliation":[{"name":"Ankara Pediatric Hematology Oncology Education and Training Hospital Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khairya","family":"Moussa","sequence":"additional","affiliation":[{"name":"Paediatric Department Maternity and Children Hospital Jeddah, Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doris","family":"Taha","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology Children's Hospital of Michigan Wayne State University Detroit Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerry K. H.","family":"Wales","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology and Diabetes Lady Cilento Children's Hospital South Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Hogue","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Madigan Army Medical Center Tacoma Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics University of California San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ambika","family":"Shetty","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Nevill Hall Hospital Abergavenny, Wales United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meena","family":"Balasubramanian","sequence":"additional","affiliation":[{"name":"Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,5,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn009"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-1827"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-013-2962-5"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-5448.2011.00828.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01259-09"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01620-08"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg776"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10059-012-0109-z"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.55.01.06.db05-0681"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1802"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20267"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/emmm.201201398"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37680","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37680","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T23:18:53Z","timestamp":1696547933000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37680"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,5]]},"references-count":12,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1002\/ajmg.a.37680"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37680","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,5]]}}}