{"id":"https://openalex.org/W2024903186","doi":"https://doi.org/10.1016/j.biomed.2013.02.002","title":"M\u00f6bius syndrome in a male with XX/XY mosaicism","display_name":"M\u00f6bius syndrome in a male with XX/XY mosaicism","publication_year":2013,"publication_date":"2013-04-17","ids":{"openalex":"https://openalex.org/W2024903186","doi":"https://doi.org/10.1016/j.biomed.2013.02.002","mag":"2024903186"},"language":"en","primary_location":{"id":"doi:10.1016/j.biomed.2013.02.002","doi":"https://doi.org/10.1016/j.biomed.2013.02.002","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.biomed.2013.02.002","pdf_url":null,"source":{"id":"https://openalex.org/S4210173945","display_name":"Biomedicine","issn_l":"2211-8020","issn":["2211-8020","2211-8039"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","oarl","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319748","host_organization_name":"EDP Sciences","host_organization_lineage":["https://openalex.org/P4310319748","https://openalex.org/P4310319982"],"host_organization_lineage_names":["EDP Sciences","Science Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BioMedicine","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W2024903186"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5080787414","display_name":"I\u2010Ching Chou","orcid":"https://orcid.org/0000-0003-4583-6226","observed_orcids":["https://orcid.org/0000-0003-4583-6226"]},"institutions":[{"id":"https://openalex.org/I184693016","display_name":"China Medical University","ror":"https://ror.org/00v408z34","country_code":"TW","type":"education","lineage":["https://openalex.org/I184693016"]},{"id":"https://openalex.org/I4210126829","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210126829"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"I-Ching Chou","raw_affiliation_strings":["Department of Pediatrics, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan","Graduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan","institution_ids":["https://openalex.org/I4210126829"]},{"raw_affiliation_string":"Graduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan","institution_ids":["https://openalex.org/I184693016"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100835042","display_name":"Wei\u2010De Lin","orcid":"https://orcid.org/0009-0008-5407-786X","observed_orcids":["https://orcid.org/0009-0008-5407-786X"]},"institutions":[{"id":"https://openalex.org/I184693016","display_name":"China Medical University","ror":"https://ror.org/00v408z34","country_code":"TW","type":"education","lineage":["https://openalex.org/I184693016"]},{"id":"https://openalex.org/I4210126829","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210126829"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Wei-De Lin","raw_affiliation_strings":["Department of Medical Research, China Medical University and Hospital, Taichung, Taiwan","School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Research, China Medical University and Hospital, Taichung, Taiwan","institution_ids":["https://openalex.org/I184693016","https://openalex.org/I4210126829"]},{"raw_affiliation_string":"School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan","institution_ids":["https://openalex.org/I184693016"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000506378","display_name":"Chung\u2010Hsing Wang","orcid":"https://orcid.org/0000-0003-0395-6123","observed_orcids":["https://orcid.org/0000-0003-0395-6123"]},"institutions":[{"id":"https://openalex.org/I4210126829","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210126829"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Chung-Hsing Wang","raw_affiliation_strings":["Department of Pediatrics, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan","institution_ids":["https://openalex.org/I4210126829"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105524856","display_name":"Yu-Tzu Chang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126829","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210126829"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Yu-Tzu Chang","raw_affiliation_strings":["Department of Pediatrics, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan","institution_ids":["https://openalex.org/I4210126829"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085686111","display_name":"Zheng-Nan Chin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126829","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210126829"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Zheng-Nan Chin","raw_affiliation_strings":["Department of Pediatrics, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan","institution_ids":["https://openalex.org/I4210126829"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112822928","display_name":"Chang\u2010Hai Tsai","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I143578492","display_name":"Asia University","ror":"https://ror.org/038a1tp19","country_code":"TW","type":"education","lineage":["https://openalex.org/I143578492"]},{"id":"https://openalex.org/I184693016","display_name":"China Medical University","ror":"https://ror.org/00v408z34","country_code":"TW","type":"education","lineage":["https://openalex.org/I184693016"]},{"id":"https://openalex.org/I4210126829","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210126829"]}],"countries":["TW"],"is_corresponding":true,"raw_author_name":"Chang-Hai Tsai","raw_affiliation_strings":["Department of Medical Research, China Medical University and Hospital, Taichung, Taiwan","Department of Pediatrics, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan","Department of Healthcare Administration, Asia University, Taichung, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Research, China Medical University and Hospital, Taichung, Taiwan","institution_ids":["https://openalex.org/I184693016","https://openalex.org/I4210126829"]},{"raw_affiliation_string":"Department of Pediatrics, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan","institution_ids":["https://openalex.org/I4210126829"]},{"raw_affiliation_string":"Department of Healthcare Administration, Asia University, Taichung, Taiwan","institution_ids":["https://openalex.org/I143578492"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111909584","display_name":"Fuu\u2010Jen Tsai","orcid":"https://orcid.org/0000-0002-1373-245X","observed_orcids":["https://orcid.org/0000-0002-1373-245X"]},"institutions":[{"id":"https://openalex.org/I184693016","display_name":"China Medical University","ror":"https://ror.org/00v408z34","country_code":"TW","type":"education","lineage":["https://openalex.org/I184693016"]},{"id":"https://openalex.org/I4210126829","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210126829"]}],"countries":["TW"],"is_corresponding":true,"raw_author_name":"Fuu-Jen Tsai","raw_affiliation_strings":["Department of Medical Research, China Medical University and Hospital, Taichung, Taiwan","Department of Pediatrics, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Research, China Medical University and Hospital, Taichung, Taiwan","institution_ids":["https://openalex.org/I184693016","https://openalex.org/I4210126829"]},{"raw_affiliation_string":"Department of Pediatrics, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan","institution_ids":["https://openalex.org/I4210126829"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5111909584","https://openalex.org/A5112822928"],"corresponding_institution_ids":["https://openalex.org/I143578492","https://openalex.org/I184693016","https://openalex.org/I4210126829"],"apc_list":null,"apc_paid":null,"fwci":3.55,"has_fulltext":false,"cited_by_count":23,"citation_normalized_percentile":{"value":0.93489843,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"3","issue":"2","first_page":"102","last_page":"104"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.986299991607666,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.986299991607666,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.003599999938160181,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12301","display_name":"Facial Nerve Paralysis Treatment and Research","score":0.0013000000035390258,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/mobius-syndrome","display_name":"M\u00f6bius syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/xx-males","display_name":"XX males","score":0.4000000059604645},{"id":"https://openalex.org/keywords/facial-diplegia","display_name":"facial diplegia","score":0.7860000133514404},{"id":"https://openalex.org/keywords/pleiotropy","display_name":"pleiotropy","score":0.578000009059906},{"id":"https://openalex.org/keywords/brain-development","display_name":"brain development","score":0.8339999914169312},{"id":"https://openalex.org/keywords/sex-determination","display_name":"sex determination","score":0.9390000104904175},{"id":"https://openalex.org/keywords/karyotype","display_name":"karyotype","score":0.5709999799728394}],"concepts":[{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.6294654607772827},{"id":"https://openalex.org/C2780753755","wikidata":"https://www.wikidata.org/wiki/Q7458535","display_name":"Sex reversal","level":3,"score":0.6071767210960388},{"id":"https://openalex.org/C2779683239","wikidata":"https://www.wikidata.org/wiki/Q202849","display_name":"Turner syndrome","level":2,"score":0.5189780592918396},{"id":"https://openalex.org/C4323932","wikidata":"https://www.wikidata.org/wiki/Q898914","display_name":"X-inactivation","level":4,"score":0.4954472780227661},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4773288369178772},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.43758925795555115},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.40525081753730774},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.37478265166282654},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.32754039764404297},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3042786717414856},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2601790428161621},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.biomed.2013.02.002","doi":"https://doi.org/10.1016/j.biomed.2013.02.002","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.biomed.2013.02.002","pdf_url":null,"source":{"id":"https://openalex.org/S4210173945","display_name":"Biomedicine","issn_l":"2211-8020","issn":["2211-8020","2211-8039"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","oarl","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319748","host_organization_name":"EDP Sciences","host_organization_lineage":["https://openalex.org/P4310319748","https://openalex.org/P4310319982"],"host_organization_lineage_names":["EDP Sciences","Science Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BioMedicine","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.5683000087738037,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320322609","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W58406835","https://openalex.org/W1539067219","https://openalex.org/W2001750461","https://openalex.org/W2002569657","https://openalex.org/W2013313136","https://openalex.org/W2029338267","https://openalex.org/W2036968094","https://openalex.org/W2038695362","https://openalex.org/W2040833865","https://openalex.org/W2049668373","https://openalex.org/W2051673303","https://openalex.org/W2067474056","https://openalex.org/W2070816144","https://openalex.org/W2079941782","https://openalex.org/W2092762918","https://openalex.org/W2095430709","https://openalex.org/W2109091714","https://openalex.org/W2147685370","https://openalex.org/W2160883991","https://openalex.org/W2263274836","https://openalex.org/W2418725921"],"related_works":["https://openalex.org/W2163488626","https://openalex.org/W2131717196","https://openalex.org/W2097846442","https://openalex.org/W2418035495","https://openalex.org/W199041159","https://openalex.org/W2405790600","https://openalex.org/W2792847628","https://openalex.org/W277939064","https://openalex.org/W1585894427","https://openalex.org/W2415538075"],"abstract_inverted_index":null,"counts_by_year":[{"year":2014,"cited_by_count":23}],"updated_date":"2026-11-13T13:42:25.865203","created_date":"2016-06-24T00:00:00"}