Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 ( BBS17) mutations.
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| Title: | Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 ( BBS17) mutations. |
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| Authors: | Schaefer, E.1, Lauer, J.1, Durand, M.1, Pelletier, V.2, Obringer, C.1, Claussmann, A.1, Braun, J.‐J.3, Redin, C.4, Mathis, C.5, Muller, J.4,6, Schmidt‐Mutter, C.5, Flori, E.7, Marion, V.1, Stoetzel, C.1, Dollfus, H.1,2 |
| Source: | Clinical Genetics. May2014, Vol. 85 Issue 5, p476-481. 6p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 95299484 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=95299484 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.12198 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 6 StartPage: 476 Titles: – TitleFull: Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 ( BBS17) mutations. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Schaefer, E. – PersonEntity: Name: NameFull: Lauer, J. – PersonEntity: Name: NameFull: Durand, M. – PersonEntity: Name: NameFull: Pelletier, V. – PersonEntity: Name: NameFull: Obringer, C. – PersonEntity: Name: NameFull: Claussmann, A. – PersonEntity: Name: NameFull: Braun, J.‐J. – PersonEntity: Name: NameFull: Redin, C. – PersonEntity: Name: NameFull: Mathis, C. – PersonEntity: Name: NameFull: Muller, J. – PersonEntity: Name: NameFull: Schmidt‐Mutter, C. – PersonEntity: Name: NameFull: Flori, E. – PersonEntity: Name: NameFull: Marion, V. – PersonEntity: Name: NameFull: Stoetzel, C. – PersonEntity: Name: NameFull: Dollfus, H. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: May2014 Type: published Y: 2014 Identifiers: – Type: issn-print Value: 00099163 Numbering: – Type: volume Value: 85 – Type: issue Value: 5 Titles: – TitleFull: Clinical Genetics Type: main |
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