{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:30:36Z","timestamp":1791203436827,"version":"4.2.0"},"reference-count":17,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2008,4,15]],"date-time":"2008-04-15T00:00:00Z","timestamp":1208217600000},"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":[[2008,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe nine previously unreported individuals from six families who have homozygous mutations of <jats:italic>HOXA1<\/jats:italic> and either the Bosley\u2013Salih\u2013Alorainy syndrome (BSAS) or the Athabascan brainstem dysgenesis syndrome (ABDS). Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction, thus raising the possibility that cardiovascular malformations might be a clinically isolated, or relatively isolated, manifestation of homozygous <jats:italic>HOXA1<\/jats:italic> mutations. Two ABDS probands had relatively mild mental retardation. These individuals blur the clinical distinctions between the BSAS and ABDS <jats:italic>HOXA1<\/jats:italic> variants and broaden the phenotype and genotype of the homozygous <jats:italic>HOXA1<\/jats:italic> mutation clinical spectrum. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32262","type":"journal-article","created":{"date-parts":[[2008,4,15]],"date-time":"2008-04-15T16:56:27Z","timestamp":1208278587000},"page":"1235-1240","source":"Crossref","is-referenced-by-count":111,"title":["The clinical spectrum of homozygous <i>HOXA1<\/i> mutations"],"prefix":"10.1002","volume":"146A","author":[{"given":"Thomas M.","family":"Bosley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibrahim A.","family":"Alorainy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa A.","family":"Salih","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hesham M.","family":"Aldhalaan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaled K.","family":"Abu\u2010Amero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darren T.","family":"Oystreck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Max A.","family":"Tischfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth C.","family":"Engle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert P.","family":"Erickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,4,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001573-200405000-00002"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000276947.59704.cf"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/355516a0"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-199905000-00007"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.6.1123"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.15.3017"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(03)00043-9"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20087"},{"key":"e_1_2_6_10_1","volume-title":"Human Embryology","author":"Larsen WJ","year":"2001"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90034-V"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002469900414"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/386671a0"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1636"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01174"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)14632-6"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02086"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02539"}],"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.32262","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32262","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T06:33:46Z","timestamp":1697610826000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32262"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4,15]]},"references-count":17,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2008,5,15]]}},"alternative-id":["10.1002\/ajmg.a.32262"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32262","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,4,15]]}}}