Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
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| Title: | Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. |
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| Authors: | Cottereau E; Service de Génétique, Centre Hospitalo‐Universitaire, and UMR INSERM U930, Faculté de Médecine, Université François Rabelais, Tours, France., Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A |
| Source: | American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2013 May; Vol. 163C (2), pp. 92-105. Date of Electronic Publication: 2013 Apr 18. |
| Publication Type: | Journal Article; Review |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 23606591 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=mdl&AN=23606591 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.c.31360 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 92 Titles: – TitleFull: Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Cottereau E – PersonEntity: Name: NameFull: Mortemousque I – PersonEntity: Name: NameFull: Moizard MP – PersonEntity: Name: NameFull: Bürglen L – PersonEntity: Name: NameFull: Lacombe D – PersonEntity: Name: NameFull: Gilbert-Dussardier B – PersonEntity: Name: NameFull: Sigaudy S – PersonEntity: Name: NameFull: Boute O – PersonEntity: Name: NameFull: David A – PersonEntity: Name: NameFull: Faivre L – PersonEntity: Name: NameFull: Amiel J – PersonEntity: Name: NameFull: Robertson R – PersonEntity: Name: NameFull: Viana Ramos F – PersonEntity: Name: NameFull: Bieth E – PersonEntity: Name: NameFull: Odent S – PersonEntity: Name: NameFull: Demeer B – PersonEntity: Name: NameFull: Mathieu M – PersonEntity: Name: NameFull: Gaillard D – PersonEntity: Name: NameFull: Van Maldergem L – PersonEntity: Name: NameFull: Baujat G – PersonEntity: Name: NameFull: Maystadt I – PersonEntity: Name: NameFull: Héron D – PersonEntity: Name: NameFull: Verloes A – PersonEntity: Name: NameFull: Philip N – PersonEntity: Name: NameFull: Cormier-Daire V – PersonEntity: Name: NameFull: Frouté MF – PersonEntity: Name: NameFull: Pinson L – PersonEntity: Name: NameFull: Blanchet P – PersonEntity: Name: NameFull: Sarda P – PersonEntity: Name: NameFull: Willems M – PersonEntity: Name: NameFull: Jacquinet A – PersonEntity: Name: NameFull: Ratbi I – PersonEntity: Name: NameFull: Van Den Ende J – PersonEntity: Name: NameFull: Lackmy-Port Lis M – PersonEntity: Name: NameFull: Goldenberg A – PersonEntity: Name: NameFull: Bonneau D – PersonEntity: Name: NameFull: Rossignol S – PersonEntity: Name: NameFull: Toutain A IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2013 May Type: published Y: 2013 Identifiers: – Type: issn-electronic Value: 1552-4876 Numbering: – Type: volume Value: 163C – Type: issue Value: 2 Titles: – TitleFull: American journal of medical genetics. Part C, Seminars in medical genetics Type: main |
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