{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T14:57:37Z","timestamp":1761663457077},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,20]],"date-time":"2016-03-20T00:00:00Z","timestamp":1458432000000},"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":[[2016,6]]},"abstract":"<jats:sec><jats:label \/><jats:p>Mutations in the <jats:italic>NOG<\/jats:italic> gene give rise to a wide range of clinical phenotypes. Noggin, the protein encoded by this gene is a secreted modulator of multiple pathways involved in both bone and joint development. Proximal symphalangism is commonly observed in patients bearing mutations in this gene, however secondary symptomes are often found including typical facies with hemicylindrical nose with bulbous tip, hyperopia, reduced mobility of multiple joints, hearing loss due to stapes fixation, and recurrent pain from affected joints. With large variation of the phenotype both within and between affected families careful delineation of the genotype\u2013phenotype correlation is needed. In this work we describe a Danish family suffering from SYNS1 due to a novel <jats:italic>NOG<\/jats:italic> gene mutation (C230Y). We provide detailed clinical description of the family members presenting rare phenotype of the shoulders shared by affected individuals but no hearing loss, further adding to the phenotypic variability of the syndrome. With these findings we broaden the understanding of <jats:italic>NOG<\/jats:italic>\u2010related\u2010symphalangism spectrum disorder. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37626","type":"journal-article","created":{"date-parts":[[2016,3,20]],"date-time":"2016-03-20T19:52:47Z","timestamp":1458503567000},"page":"1479-1484","source":"Crossref","is-referenced-by-count":8,"title":["Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel <i>NOG<\/i> mutation and without hearing loss"],"prefix":"10.1002","volume":"170","author":[{"given":"Allan","family":"Bayat","sequence":"first","affiliation":[{"name":"Clinical Genetic Clinic Copenhagen University Hospital Rigshospitalet Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Igor","family":"Fijalkowski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University and University Hospital of Antwerp Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias","family":"Andersen","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Copenhagen University Hospital Rigshospitalet Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sura Azhar","family":"Abdulmunem","sequence":"additional","affiliation":[{"name":"Department of Radiology Copenhagen University Hospital Rigshospitalet Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jenneke","family":"van den Ende","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University and University Hospital of Antwerp Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wim","family":"Van Hul","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University and University Hospital of Antwerp Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,3,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200303000-00014"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5368.1455"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/503204"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200109000-00004"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200875"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/6821"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01245"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/301921"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.201367598"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.060411"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1035"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21515"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.21132"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33387"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600607.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01831.x"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M703282200"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.007"}],"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.37626","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37626","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T09:47:31Z","timestamp":1696585651000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37626"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,20]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,6]]}},"alternative-id":["10.1002\/ajmg.a.37626"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37626","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,20]]}}}