A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.
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| Title: | A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. |
|---|---|
| Authors: | Paganini, I.1, Sestini, R.1, Capone, G.L.1, Putignano, A.L.1, Contini, E.2, Giotti, I.2, Gensini, F.1, Marozza, A.1,3, Barilaro, A.4, Porfirio, B.1, Papi, L.1 |
| Source: | Clinical Genetics. Dec2017, Vol. 92 Issue 6, p664-668. 6p. 3 Diagrams. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 126133668 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=126133668 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.13085 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 6 StartPage: 664 Titles: – TitleFull: A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Paganini, I. – PersonEntity: Name: NameFull: Sestini, R. – PersonEntity: Name: NameFull: Capone, G.L. – PersonEntity: Name: NameFull: Putignano, A.L. – PersonEntity: Name: NameFull: Contini, E. – PersonEntity: Name: NameFull: Giotti, I. – PersonEntity: Name: NameFull: Gensini, F. – PersonEntity: Name: NameFull: Marozza, A. – PersonEntity: Name: NameFull: Barilaro, A. – PersonEntity: Name: NameFull: Porfirio, B. – PersonEntity: Name: NameFull: Papi, L. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: Dec2017 Type: published Y: 2017 Identifiers: – Type: issn-print Value: 00099163 Numbering: – Type: volume Value: 92 – Type: issue Value: 6 Titles: – TitleFull: Clinical Genetics Type: main |
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