{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:53:53Z","timestamp":1789764833542,"version":"4.0.1"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,4,24]],"date-time":"2014-04-24T00:00:00Z","timestamp":1398297600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"EU funded ERA-NET project, The Scientific and Technological Research Council of Turkey","award":["112S398"],"award-info":[{"award-number":["112S398"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,8]]},"abstract":"Heterozygous loss\u2010of\u2010function mutations in ALX4<\/jats:italic> are responsible for enlarged parietal foramina, whereas patients with biallelic ALX4<\/jats:italic> mutations display a phenotypic spectrum of clinical findings, from mild to severe alopecia, cranium bifidum, hypertelorism, microphthalmia, with alar clefting being the pivotal sign in all affecteds. We report on four affected individuals in a three\u2010generation family, displaying a phenotypic spectrum ranging from mild nasal clefting and broad columella to subtle changes in nasal configuration in addition to parietal foramina, caused by a novel ALX4<\/jats:italic> mutation (c.646C>G, p.Arg216Gly). This is the second report of a family showing vertical transmission of a dominant ALX4<\/jats:italic> mutation with facial involvement in addition to parietal foramina, mimicking mild recessive ALX4<\/jats:italic> phenotype. We discuss possible pathological mechanisms that may have lead to phenotypic variation in the family and challenges in genetic counseling. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36578","type":"journal-article","created":{"date-parts":[[2014,4,24]],"date-time":"2014-04-24T19:36:55Z","timestamp":1398368215000},"page":"2054-2058","source":"Crossref","is-referenced-by-count":18,"title":["Mild nasal clefting may be predictive for ALX4<\/i> heterozygotes"],"prefix":"10.1002","volume":"164","author":[{"given":"Umut","family":"Altunoglu","sequence":"first","affiliation":[{"name":"Medical Genetics Department Istanbul Medical Faculty Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bilge","family":"Satk\u0131n","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Medical Faculty Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehra Oya","family":"Uyguner","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Medical Faculty Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Medical Faculty Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35762"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046688"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp391"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34390"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.05.023"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/83703"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201526"},{"key":"e_1_2_6_11_1","first-page":"651","article-title":"Vertebrate aristaless\u2010related genes","volume":"43","author":"Meijlink F","year":"1999","journal-title":"Int J Dev Biol"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(88)90014-X"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80423-7"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/428366"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402819101"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.009"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.002"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.12.916"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22166"}],"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.36578","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36578","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T05:29:20Z","timestamp":1696570160000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36578"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,24]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1002\/ajmg.a.36578"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36578","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,24]]}}}