{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:18:07Z","timestamp":1761743887642},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,1,29]],"date-time":"2014-01-29T00:00:00Z","timestamp":1390953600000},"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":[[2014,5]]},"abstract":"<jats:sec><jats:label \/><jats:p>Congenital Nasal Pyriform Aperture Stenosis (CNPAS) is a rare congenital malformation caused by overgrowth of the maxillary bone. We report on two patients, brothers born 3 and 1\u00bd years apart, both presented at birth with radiographically diagnosed CNPAS. Both siblings also were born with ocular albinism, which is known to have X\u2010linked inheritance. Subsequent genetic testing demonstrated a 97\u2009kb deletion in the p arm of the X chromosome in both siblings and their mother. This deletion encompasses a gene known to cause ocular albinism (<jats:italic>GPR143<\/jats:italic>), as well as partial deletion of two other genes, <jats:italic>TBL1X<\/jats:italic> and <jats:italic>SHROOM2<\/jats:italic>. This is the first reported case of CNPAS in siblings, both males, sharing a maternally inherited Xp22.2 deletion. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36415","type":"journal-article","created":{"date-parts":[[2014,1,29]],"date-time":"2014-01-29T21:11:19Z","timestamp":1391029879000},"page":"1268-1271","source":"Crossref","is-referenced-by-count":8,"title":["Congenital nasal pyriform aperture stenosis and ocular albinism co\u2010occurring in a sibship with a maternally\u2010inherited 97\u2009kb Xp22.2 microdeletion"],"prefix":"10.1002","volume":"164","author":[{"given":"David","family":"Somsen","sequence":"first","affiliation":[{"name":"Sanford School of Medicine of the University of South Dakota Sioux Falls South Dakota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Davis\u2010Keppen","sequence":"additional","affiliation":[{"name":"Sanford School of Medicine of the University of South Dakota Sioux Falls South Dakota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Crotwell","sequence":"additional","affiliation":[{"name":"Sanford School of Medicine of the University of South Dakota Sioux Falls South Dakota"},{"name":"Sanford Medical Genetics Laboratory Sioux Falls South Dakota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason","family":"Flanagan","sequence":"additional","affiliation":[{"name":"Sanford School of Medicine of the University of South Dakota Sioux Falls South Dakota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Munson","sequence":"additional","affiliation":[{"name":"Sanford School of Medicine of the University of South Dakota Sioux Falls South Dakota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Quinn","family":"Stein","sequence":"additional","affiliation":[{"name":"Sanford School of Medicine of the University of South Dakota Sioux Falls South Dakota"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,1,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302408"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.213.2.r99oc38495"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328337589b"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2012.27.10.1273"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-2-18"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1597\/07-182.1"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.24.2813"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.4.11.2151"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.14.9.1048"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-12"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31451"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.3.373"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/301776"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2011.09.016"}],"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.36415","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36415","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T16:02:31Z","timestamp":1696608151000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36415"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,29]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1002\/ajmg.a.36415"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36415","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,29]]}}}