[Novel PAX1 mutation identified in autosomal dominant otofaciocervical syndrome 2 with new phenotypes].
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| Title: | [Novel PAX1 mutation identified in autosomal dominant otofaciocervical syndrome 2 with new phenotypes]. |
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| Authors: | Chen Y; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China., Yang R; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China., Lin NE; Department of Radiology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China., Yu QX; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China., Chen X; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China., Zhang TY; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China NHC Key Laboratory of Hearing Medicine (Fudan University), Shanghai 200031, China., Ma J; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China Institute of Medical Genetics & Genomics, Fudan University, Shanghai 200032, China. |
| Source: | Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery [Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2025 Jul 07; Vol. 60 (7), pp. 815-823. |
| Publication Type: | English Abstract; Journal Article |
| Journal Info: | Publisher: Zhonghua yi xue hui za zhi she Country of Publication: China NLM ID: 101247574 Publication Model: Print Cited Medium: Print ISSN: 1673-0860 (Print) Linking ISSN: 16730860 NLM ISO Abbreviation: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40850800 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: [Novel PAX1 mutation identified in autosomal dominant otofaciocervical syndrome 2 with new phenotypes]. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Chen+Y%22">Chen Y</searchLink>; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China.<br /><searchLink fieldCode="AU" term="%22Yang+R%22">Yang R</searchLink>; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China.<br /><searchLink fieldCode="AU" term="%22Lin+NE%22">Lin NE</searchLink>; Department of Radiology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China.<br /><searchLink fieldCode="AU" term="%22Yu+QX%22">Yu QX</searchLink>; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China.<br /><searchLink fieldCode="AU" term="%22Chen+X%22">Chen X</searchLink>; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China.<br /><searchLink fieldCode="AU" term="%22Zhang+TY%22">Zhang TY</searchLink>; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China NHC Key Laboratory of Hearing Medicine (Fudan University), Shanghai 200031, China.<br /><searchLink fieldCode="AU" term="%22Ma+J%22">Ma J</searchLink>; Department of Facial Plastic and Reconstructive Surgery, ENT institute, Eye & ENT Hospital, Fudan University, Shanghai 200031, China Institute of Medical Genetics & Genomics, Fudan University, Shanghai 200032, China. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101247574%22">Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery</searchLink> [Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2025 Jul 07; Vol. 60 (7), pp. 815-823. – Name: TypePub Label: Publication Type Group: TypPub Data: English Abstract; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Zhonghua+yi+xue+hui+za+zhi+she%22">Zhonghua yi xue hui za zhi she </searchLink><i>Country of Publication: </i>China <i>NLM ID: </i>101247574 <i>Publication Model: </i>Print <i>Cited Medium: </i>Print <i>ISSN: </i>1673-0860 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216730860%22">16730860 </searchLink><i>NLM ISO Abbreviation: </i>Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40850800 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3760/cma.j.cn115330-20240723-00443 Languages: – Code: chi Text: Chinese PhysicalDescription: Pagination: StartPage: 815 Titles: – TitleFull: [Novel PAX1 mutation identified in autosomal dominant otofaciocervical syndrome 2 with new phenotypes]. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Chen Y – PersonEntity: Name: NameFull: Yang R – PersonEntity: Name: NameFull: Lin NE – PersonEntity: Name: NameFull: Yu QX – PersonEntity: Name: NameFull: Chen X – PersonEntity: Name: NameFull: Zhang TY – PersonEntity: Name: NameFull: Ma J IsPartOfRelationships: – BibEntity: Dates: – D: 07 M: 07 Text: 2025 Jul 07 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 1673-0860 Numbering: – Type: volume Value: 60 – Type: issue Value: 7 Titles: – TitleFull: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery Type: main |
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