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Clinical features of elevated follicle stimulating hormone and low estradiol levels in the case were diagnosed as BPES syndrome and were consistent with BPES type 2. To date, there are no cases of BPES with cleft palate and cardiomyopathy, suggesting that these novel findings can be part of this condition.<\/jats:p>","DOI":"10.1597\/15-032","type":"journal-article","created":{"date-parts":[[2015,10,27]],"date-time":"2015-10-27T14:40:06Z","timestamp":1445956806000},"page":"732-735","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype"],"prefix":"10.1177","volume":"53","author":[{"given":"Sultan","family":"Kaba","sequence":"first","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Y\u00fcz\u00fcnc\u00fc Yil University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Do\u011fAn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Y\u00fcz\u00fcnc\u00fc Yil University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keziban","family":"Bulan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Y\u00fcz\u00fcnc\u00fc Yil University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nihat","family":"Demir","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Y\u00fcz\u00fcnc\u00fc Yil University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdurrahman","family":"\u00dcner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Y\u00fcz\u00fcnc\u00fc Yil University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet","family":"Deniz Bulut","sequence":"additional","affiliation":[{"name":"Department of Radiology, School of Medicine, Y\u00fcz\u00fcnc\u00fc Yil University, Van, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selami","family":"Kocaman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Y\u00fcz\u00fcnc\u00fc Yil University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2016,11,1]]},"reference":[{"key":"bibr1-15-032","first-page":"954","volume":"62","author":"Adio A.A.","year":"2014","journal-title":"J Ophthalmol."},{"key":"bibr2-15-032","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1111\/j.1600-0404.1985.tb03205.x","volume":"71","author":"Airaksinen E.M.","year":"1985","journal-title":"Acta Neurol Scand."},{"key":"bibr3-15-032","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1136\/bjo.75.12.746","volume":"75","author":"Beaconsfield M.","year":"1991","journal-title":"Br J Ophthalmol."},{"key":"bibr4-15-032","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1046\/j.1442-9071.2003.00621.x","volume":"31","author":"Beckingsale P.S.","year":"2003","journal-title":"Clin Experiment Ophthalmol."},{"key":"bibr5-15-032","first-page":"878","volume":"39","author":"Begum H.","year":"2002","journal-title":"Indian Pediatr."},{"key":"bibr6-15-032","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/ajmg.1320570310","volume":"57","author":"Ben-Neriah Z.","year":"1995","journal-title":"Am J Med Genet."},{"key":"bibr7-15-032","doi-asserted-by":"crossref","first-page":"285","DOI":"10.3928\/01913913-20060901-03","volume":"43","author":"Choi K.H.","year":"2006","journal-title":"J Pediatr Ophthalmol Strabismus."},{"key":"bibr8-15-032","doi-asserted-by":"publisher","DOI":"10.1038\/84781"},{"key":"bibr9-15-032","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.15.1591"},{"key":"bibr10-15-032","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1978.tb15179.x"},{"key":"bibr11-15-032","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1111\/j.1651-2227.1974.tb04882.x","volume":"63","author":"Erikson A.","year":"1974","journal-title":"Acta Paediatr Scand."},{"key":"bibr12-15-032","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1002\/ajmg.1285","volume":"15","author":"Hirshfeld A.B.","year":"2001","journal-title":"Am J Med Genet."},{"key":"bibr13-15-032","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.11.1963"},{"key":"bibr14-15-032","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01022.x"},{"key":"bibr15-15-032","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1093\/humrep\/dep355","volume":"25","author":"M\u00e9duri G.","year":"2010","journal-title":"Hum Reprod."},{"key":"bibr16-15-032","doi-asserted-by":"crossref","first-page":"e62","DOI":"10.1097\/IOP.0000000000000073","volume":"31","author":"Ng J.K.","year":"2014","journal-title":"Ophthal Plast Reconstr Surg."},{"key":"bibr17-15-032","unstructured":"Online Mendelian Inheritance in Man. 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