{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:03:08Z","timestamp":1792782188164,"version":"4.5.0"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,11,18]],"date-time":"2015-11-18T00:00:00Z","timestamp":1447804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Institute on Deafness and Other Communication Disorders (NIDCD\/NIH)","award":["R01 DC012564"],"award-info":[{"award-number":["R01 DC012564"]}],"id":[{"id":"https:\/\/ror.org\/04mhx6838","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Internal Departmental Funds"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      The frontonasal dysplasias are a group of craniofacial phenotypes characterized by hypertelorism, nasal clefting, frontal bossing, and abnormal hairline. These conditions are caused by recessive mutations in members of the\n                      <jats:italic>aristaless<\/jats:italic>\n                      gene family, resulting in abnormal cranial neural crest migration and differentiation. We report a family with a dominantly inherited craniofacial phenotype comprised of frontal bossing with high hairline, ptosis, hypertelorism, broad nasal tip, large anterior fontanelle, cranial base anomalies, and sagittal synostosis. Chromosomal microarray identified a heterozygous 108.3 kilobase deletion of chromosome 2p21 segregating with phenotype and limited to the\n                      <jats:italic>sine oculis<\/jats:italic>\n                      homeobox gene\n                      <jats:italic>SIX2<\/jats:italic>\n                      and surrounding noncoding DNA. Similar to the human\n                      <jats:italic>SIX2<\/jats:italic>\n                      deletion phenotype, one mouse model of frontonasal dysplasia,\n                      <jats:italic>brachyrrhine<\/jats:italic>\n                      , exhibits dominant inheritance and impaired cranial base chondrogenesis associated with reduced\n                      <jats:italic>Six2<\/jats:italic>\n                      expression. We report the first human autosomal dominant frontonasal dysplasia syndrome associated with\n                      <jats:italic>SIX2<\/jats:italic>\n                      deletion and with phenotypic similarities to murine models of\n                      <jats:italic>Six2<\/jats:italic>\n                      Loss\u2010of\u2010function. \u00a9 2015 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37441","type":"journal-article","created":{"date-parts":[[2015,11,18]],"date-time":"2015-11-18T22:25:13Z","timestamp":1447885513000},"page":"487-491","source":"Crossref","is-referenced-by-count":40,"title":["A new frontonasal dysplasia syndrome associated with deletion of the\n                    <i>SIX2<\/i>\n                    gene"],"prefix":"10.1002","volume":"170","author":[{"given":"Robert B.","family":"Hufnagel","sequence":"first","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center and Department of Pediatrics. University of Cincinnati College of Medicine Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah L.","family":"Zimmerman","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center and Department of Pediatrics. University of Cincinnati College of Medicine Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura A.","family":"Krueger","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center and Department of Pediatrics. University of Cincinnati College of Medicine Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia L.","family":"Bender","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center and Department of Pediatrics. University of Cincinnati College of Medicine Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zubair M.","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology University of Maryland Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard M.","family":"Saal","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center and Department of Pediatrics. University of Cincinnati College of Medicine Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,11,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.20.3975"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(00)00105-0"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.18.4301"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00511"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21587"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.90550.2008"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2010.05.509"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/513322"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.14.2587"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36008"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34390"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp391"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01536"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.017624"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000147492"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/002215540104900903"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(1994)031<0417:ACBMIM>2.3.CO;2"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420470409"},{"key":"e_1_2_5_20_1","first-page":"547","article-title":"Morphological deficiency in the prenatal anterior cranial base of midfacially retrognathic mice","volume":"188","author":"Ma W","year":"1996","journal-title":"J Anat"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/83703"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.a.10034"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0308475101"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7601381"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/138.4.1137"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1998.8921"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402819101"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.009"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.002"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006111282"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1086\/421532"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.08.020"}],"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.37441","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37441","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T16:06:05Z","timestamp":1696608365000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37441"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,18]]},"references-count":31,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,2]]}},"alternative-id":["10.1002\/ajmg.a.37441"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37441","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,11,18]]}}}