{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T21:29:11Z","timestamp":1778102951054,"version":"3.51.4"},"reference-count":30,"publisher":"Walter de Gruyter GmbH","issue":"1-2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,1,1]]},"DOI":"10.1515\/jpem-2013-0219","type":"journal-article","created":{"date-parts":[[2013,9,12]],"date-time":"2013-09-12T20:07:37Z","timestamp":1379016457000},"source":"Crossref","is-referenced-by-count":2,"title":["A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I"],"prefix":"10.1515","volume":"27","author":[{"given":"Alejandro","family":"Martinez-Aguayo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena","family":"Poggi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreina","family":"Cattani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcela","family":"Molina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliana","family":"Romeo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcela","family":"Lagos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref251","first-page":"77","article-title":"impairment in human disease","author":"Verdin","year":"2012","journal-title":"Horm Res Paediatr"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/humu.20819","article-title":"Christin Identification of novel known mutations in patients with Blepharophimosis syndrome","volume":"29","author":"Beysen","year":"2008","journal-title":"Hum Mutat"},{"key":"ref51","first-page":"73","article-title":"in gonad development","volume":"10","author":"Jaubert","year":"2011","journal-title":"pathology"},{"key":"ref151","first-page":"117","article-title":"- mutations in blepharophimosis - ptosis - epicanthus inversus syndrome challenges for genetic counseling in female patients","author":"Fokstuen","year":"2003","journal-title":"Am J Med Genet"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/humu.20819","article-title":"Christin Identification of novel known mutations in patients with Blepharophimosis syndrome","volume":"29","author":"Beysen","year":"2008","journal-title":"Hum Mutat"},{"key":"ref321","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1093\/hmg\/ddm373","article-title":"Differential aggregation and functional impairment induced by polyalanine expansions in a transcription factor involved in cranio - facial and ovarian development","volume":"17","author":"Moumne","year":"2008","journal-title":"Hum Mol Genet"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1093\/hmg\/ddm373","article-title":"Differential aggregation and functional impairment induced by polyalanine expansions in a transcription factor involved in cranio - facial and ovarian development","volume":"17","author":"Moumne","year":"2008","journal-title":"Hum Mol Genet"},{"key":"ref361","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1093\/humrep\/dep355","article-title":"mutations lead to different ovarian phenotypes in BPES patients : case report","volume":"25","author":"Meduri","year":"2010","journal-title":"Hum Reprod"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/84781","article-title":"The putative forkhead transcription factor is mutated in blepharophimosis ptosis epicanthus inversus syndrome","volume":"27","author":"Crisponi","year":"2001","journal-title":"Nat Genet"},{"key":"ref61","first-page":"77","article-title":"impairment in human disease","author":"Verdin","year":"2012","journal-title":"Horm Res Paediatr"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1086\/346118","article-title":"mutational hotspots phenotypic variability and revision of the genotype - phenotype correlation","author":"De Baere","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref01","first-page":"39","article-title":"expression of","volume":"21","author":"Cocquet","year":"2002","journal-title":"Evolution J Med Genet"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1086\/346118","article-title":"mutational hotspots phenotypic variability and revision of the genotype - phenotype correlation","author":"De Baere","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref71","first-page":"196","article-title":"Premature ovarian failure","author":"Goswami","year":"2007","journal-title":"Horm Res"},{"key":"ref161","article-title":"copy number changes in the molecular pathogenesis of unique cohort of deletions","volume":"17","author":"Haene","year":"2010","journal-title":"Hum Mutat"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"2795","DOI":"10.1093\/hmg\/ddm235","article-title":"Loss of leads to female - to - male sex reversal extending to germ cells","volume":"16","author":"Ottolenghi","year":"2007","journal-title":"Hum Mol Genet"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"2795","DOI":"10.1093\/hmg\/ddm235","article-title":"Loss of leads to female - to - male sex reversal extending to germ cells","volume":"16","author":"Ottolenghi","year":"2007","journal-title":"Hum Mol Genet"},{"key":"ref241","first-page":"73","article-title":"in gonad development","volume":"10","author":"Jaubert","year":"2011","journal-title":"pathology"},{"key":"ref21","first-page":"450","article-title":"MD Human forkhead represses key genes in granulosa cell differentiation including aromatase scc cyclin","author":"Bentsi","year":"2010","journal-title":"Fertil Steril"},{"key":"ref311","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"den Mutation nomenclature extensions and suggestions to describe complex mutations : a discussion","volume":"15","author":"Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"ref341","first-page":"117","article-title":"- mutations in blepharophimosis - ptosis - epicanthus inversus syndrome challenges for genetic counseling in female patients","author":"Fokstuen","year":"2003","journal-title":"Am J Med Genet"},{"key":"ref211","first-page":"450","article-title":"MD Human forkhead represses key genes in granulosa cell differentiation including aromatase scc cyclin","author":"Bentsi","year":"2010","journal-title":"Fertil Steril"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/84781","article-title":"The putative forkhead transcription factor is mutated in blepharophimosis ptosis epicanthus inversus syndrome","volume":"27","author":"Crisponi","year":"2001","journal-title":"Nat Genet"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"den Mutation nomenclature extensions and suggestions to describe complex mutations : a discussion","volume":"15","author":"Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"ref191","first-page":"39","article-title":"expression of","volume":"21","author":"Cocquet","year":"2002","journal-title":"Evolution J Med Genet"},{"key":"ref291","first-page":"124","article-title":"Identification of copy number variants associated with BPES - like phenotypes","author":"Gijsbers","year":"2008","journal-title":"Hum Genet"},{"key":"ref101","first-page":"124","article-title":"Identification of copy number variants associated with BPES - like phenotypes","author":"Gijsbers","year":"2008","journal-title":"Hum Genet"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1093\/humrep\/dep355","article-title":"mutations lead to different ovarian phenotypes in BPES patients : case report","volume":"25","author":"Meduri","year":"2010","journal-title":"Hum Reprod"},{"key":"ref351","article-title":"copy number changes in the molecular pathogenesis of unique cohort of deletions","volume":"17","author":"Haene","year":"2010","journal-title":"Hum Mutat"},{"key":"ref261","first-page":"196","article-title":"Premature ovarian failure","author":"Goswami","year":"2007","journal-title":"Horm Res"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2013-0219\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:35:52Z","timestamp":1619055352000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2013-0219\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,1]]},"references-count":30,"journal-issue":{"issue":"1-2"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2013-0219","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2014,1,1]]}}}