Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.
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| Title: | Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2. |
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| Authors: | Chen, Ying1,2 (AUTHOR), Yang, Run1,2 (AUTHOR), Chen, Xin1,2 (AUTHOR), Lin, Naier3 (AUTHOR), Li, Chenlong1,2 (AUTHOR), Fu, Yaoyao1,2 (AUTHOR), He, Aijuan1,2 (AUTHOR), Wang, Yimin4 (AUTHOR), Zhang, Tianyu1,2,5 (AUTHOR) ty.zhang2006@aliyun.com, Ma, Jing1,2 (AUTHOR) mj19815208@yeah.net |
| Source: | Molecular Genetics & Genomic Medicine. Apr2024, Vol. 12 Issue 4, p1-9. 9p. |
| Database: | Academic Search Ultimate |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 176869043 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Chen%2C+Ying%22">Chen, Ying</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yang%2C+Run%22">Yang, Run</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chen%2C+Xin%22">Chen, Xin</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lin%2C+Naier%22">Lin, Naier</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Chenlong%22">Li, Chenlong</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fu%2C+Yaoyao%22">Fu, Yaoyao</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22He%2C+Aijuan%22">He, Aijuan</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wang%2C+Yimin%22">Wang, Yimin</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhang%2C+Tianyu%22">Zhang, Tianyu</searchLink><relatesTo>1,2,5</relatesTo> (AUTHOR)<i> ty.zhang2006@aliyun.com</i><br /><searchLink fieldCode="AR" term="%22Ma%2C+Jing%22">Ma, Jing</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> mj19815208@yeah.net</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Genomic+Medicine%22">Molecular Genetics & Genomic Medicine</searchLink>. Apr2024, Vol. 12 Issue 4, p1-9. 9p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=176869043 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/mgg3.2426 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 9 StartPage: 1 Titles: – TitleFull: Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Chen, Ying – PersonEntity: Name: NameFull: Yang, Run – PersonEntity: Name: NameFull: Chen, Xin – PersonEntity: Name: NameFull: Lin, Naier – PersonEntity: Name: NameFull: Li, Chenlong – PersonEntity: Name: NameFull: Fu, Yaoyao – PersonEntity: Name: NameFull: He, Aijuan – PersonEntity: Name: NameFull: Wang, Yimin – PersonEntity: Name: NameFull: Zhang, Tianyu – PersonEntity: Name: NameFull: Ma, Jing IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: Apr2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 23249269 Numbering: – Type: volume Value: 12 – Type: issue Value: 4 Titles: – TitleFull: Molecular Genetics & Genomic Medicine Type: main |
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