{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:10:17Z","timestamp":1787062217622,"version":"build-2736575974"},"reference-count":21,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,7,13]],"date-time":"2016-07-13T00:00:00Z","timestamp":1468368000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Curekids New Zealand"},{"DOI":"10.13039\/501100009193","name":"Royal Society of New Zealand Marsden Fund","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100009193","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Recently, a newly identified autosomal recessive skeletal dysplasia was described characterized by calvarial abnormalities (including cranium bifidum, coronal, and lambdoid synostosis), oligodactyly, femoral bowing, narrow thorax, small pelvic bones, and radiohumeral synostosis. In the two families described, a more severe phenotype led to in utero lethality in three siblings while in a single patient in a second family the phenotype was sufficiently mild to allow survival to 5 months of age. The disorder is caused by biallelic missense mutations in\n                      <jats:italic>CYP26B1<\/jats:italic>\n                      , which encodes for a cytochrome P450 enzyme responsible for the catabolism of retinoic acid in a temporally and spatially restricted fashion during embryonic development. Here, we provide the third family affected by the disorder and the first affected individual to survive beyond infancy. This woman homozygous for c.1303G&gt;A; p.(Gly435Ser) in CYP26B1, which was associated with multisutural synostosis, radiohumeral synostosis, normal bone mineral density, and apparent intellectual disability, a phenotype with significant similarities to Antley\u2013Bixler and Pfeiffer syndromes. \u00a9 2016 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37804","type":"journal-article","created":{"date-parts":[[2016,7,13]],"date-time":"2016-07-13T12:33:11Z","timestamp":1468413191000},"page":"2706-2710","source":"Crossref","is-referenced-by-count":23,"title":["Biallelic mutations in\n                    <i>CYP26B1<\/i>\n                    : A differential diagnosis for Pfeiffer and Antley\u2013Bixler syndromes"],"prefix":"10.1002","volume":"170","author":[{"given":"Jenny E. V.","family":"Morton","sequence":"first","affiliation":[{"name":"Clinical Genetics Unit Birmingham Women's Hospital Edgbaston Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia","family":"Frentz","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health Dunedin School of Medicine Otago University Dunedin New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Morgan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health Dunedin School of Medicine Otago University Dunedin New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Sutherland\u2010Smith","sequence":"additional","affiliation":[{"name":"Institute of Molecular BioSciences Massey University Palmerston North New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen P.","family":"Robertson","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health Dunedin School of Medicine Otago University Dunedin New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,7,13]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(01)00572-X"},{"key":"e_1_2_4_3_1","first-page":"397","article-title":"Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures","volume":"11","author":"Antley R","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11154-007-9056-y"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2012-1071"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.09.002"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1300"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0b013e3181d62980"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420440603"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.09.015"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1107\/S0907444911007281"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M401920200"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/512203"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2002.17.8.1349"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420440602"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.851501"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000114857"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1567-133X(03)00066-8"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-19"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3213"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(04)00062-0"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420210105"}],"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.37804","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37804","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T22:17:14Z","timestamp":1694297834000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37804"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,13]]},"references-count":21,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1002\/ajmg.a.37804"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37804","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,13]]}}}