{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T05:13:06Z","timestamp":1778821986486,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,1,7]],"date-time":"2022-01-07T00:00:00Z","timestamp":1641513600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006086","name":"Office of Strategic Coordination","doi-asserted-by":"publisher","award":["1U01HG010230"],"award-info":[{"award-number":["1U01HG010230"]}],"id":[{"id":"10.13039\/100006086","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Auriculocondylar syndrome (ARCND) is characterized by a distinguished feature of question mark ears and a variation of other minor and major malformations. Monoallelic or biallelic <jats:italic>PLCB4<\/jats:italic> variants have been reported in a subset of affected individuals, referred to as ARCND2. We report on a 3\u2010year\u2010old female with ARCND who presented at birth with question mark ears, micrognathia, and bilateral choanal stenosis that was characterized by difficulty in breathing. She was found to be heterozygous for a novel <jats:italic>PLCB4<\/jats:italic> variant, p.Glu358Gly. Respiratory distress is rare in autosomal dominant ARCND2 and choanal stenosis has not been reported. Our study expands the clinical phenotype of ARCND by adding choanal stenosis as a finding and suggests that PLCB4 play a role in the development of choanal structures.<\/jats:p>","DOI":"10.1002\/ajmg.a.62634","type":"journal-article","created":{"date-parts":[[2022,1,7]],"date-time":"2022-01-07T15:20:00Z","timestamp":1641568800000},"page":"1307-1310","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Bilateral choanal stenosis in auriculocondylar syndrome caused by a <scp><i>PLCB4<\/i><\/scp> variant"],"prefix":"10.1002","volume":"188","author":[{"given":"L\u00e9 Shon","family":"Peart","sequence":"first","affiliation":[{"name":"Division of Clinical and Translational Genetics, Dr John T Macdonald Foundation Department of Human Genetics, Miller School of Medicine University of Miami  Miami Florida 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