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Here we report two siblings of Indian origin with BSAS phenotype caused by a novel homozygous exon 2 <jats:italic>HOXA1<\/jats:italic> pathogenic variants.<\/jats:p>","DOI":"10.1002\/ajmg.a.61809","type":"journal-article","created":{"date-parts":[[2020,8,31]],"date-time":"2020-08-31T08:27:09Z","timestamp":1598862429000},"page":"2699-2703","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Bosley\u2013Salih\u2013Alorainy syndrome in patients from India"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7154-3449","authenticated-orcid":false,"given":"Siddaramappa J.","family":"Patil","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Mazumdar Shaw Medical Center Narayana Hrudayalaya Hospitals  Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gadabanahalli Ashok","family":"Karthik","sequence":"additional","affiliation":[{"name":"Department of Radiology, Mazumdar Shaw Medical Center Narayana Hrudayalaya Hospitals  Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gandham SriLakshmi","family":"Bhavani","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal Academy of Higher Education  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Venkatraman","family":"Bhat","sequence":"additional","affiliation":[{"name":"Department of Radiology, Mazumdar Shaw Medical Center Narayana Hrudayalaya Hospitals  Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jyoti","family":"Matalia","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology &amp; Strabismology Narayana Nethralaya  Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jhanvi","family":"Shah","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Mazumdar Shaw Medical Center Narayana Hrudayalaya Hospitals  Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8347-429X","authenticated-orcid":false,"given":"Anju","family":"Shukla","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal Academy of Higher Education  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0139-8239","authenticated-orcid":false,"given":"Katta Mohan","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal Academy of Higher Education  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,8,31]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100018473"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32262"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000276947.59704.cf"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/dneu.22477"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2003.10.005"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2017.09.033"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-199905000-00007"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1969"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20087"},{"issue":"1","key":"e_1_2_9_11_1","first-page":"23","article-title":"HOX genes: Seductive science, mysterious mechanisms","volume":"75","author":"Lappin T. 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