Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.
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| Title: | Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report. |
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| Authors: | Vado Y; Rare Diseases Research Group. Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Araba, Spain.; Laboratory of Pharmacy and Pharmaceutical Technology, Faculty of Pharmacy, University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, Araba, Spain., Errea-Dorronsoro J; Rare Diseases Research Group. Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Araba, Spain., Llano-Rivas I; Service of Genetics, BioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces, Barakaldo, Bizkaia, Spain., Gorria N; Service of Pediatric Neurology, BioAraba Health Research Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Araba, Spain., Pereda A; Rare Diseases Research Group. Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Araba, Spain., Gener B; Service of Genetics, BioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces, Barakaldo, Bizkaia, Spain., Garcia-Naveda L; Service of Genetics, BioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces, Barakaldo, Bizkaia, Spain., Perez de Nanclares G; Rare Diseases Research Group. Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Araba, Spain. gnanclares@osakidetza.eus. |
| Source: | BMC medical genomics [BMC Med Genomics] 2018 Dec 27; Vol. 11 (1), pp. 124. Date of Electronic Publication: 2018 Dec 27. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 30587166 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Vado+Y%22">Vado Y</searchLink>; Rare Diseases Research Group. Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Araba, Spain.; Laboratory of Pharmacy and Pharmaceutical Technology, Faculty of Pharmacy, University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, Araba, Spain.<br /><searchLink fieldCode="AU" term="%22Errea-Dorronsoro+J%22">Errea-Dorronsoro J</searchLink>; Rare Diseases Research Group. Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Araba, Spain.<br /><searchLink fieldCode="AU" term="%22Llano-Rivas+I%22">Llano-Rivas I</searchLink>; Service of Genetics, BioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces, Barakaldo, Bizkaia, Spain.<br /><searchLink fieldCode="AU" term="%22Gorria+N%22">Gorria N</searchLink>; Service of Pediatric Neurology, BioAraba Health Research Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.<br /><searchLink fieldCode="AU" term="%22Pereda+A%22">Pereda A</searchLink>; Rare Diseases Research Group. Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Araba, Spain.<br /><searchLink fieldCode="AU" term="%22Gener+B%22">Gener B</searchLink>; Service of Genetics, BioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces, Barakaldo, Bizkaia, Spain.<br /><searchLink fieldCode="AU" term="%22Garcia-Naveda+L%22">Garcia-Naveda L</searchLink>; Service of Genetics, BioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces, Barakaldo, Bizkaia, Spain.<br /><searchLink fieldCode="AU" term="%22Perez+de+Nanclares+G%22">Perez de Nanclares G</searchLink>; Rare Diseases Research Group. Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Araba, Spain. gnanclares@osakidetza.eus. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101319628%22">BMC medical genomics</searchLink> [BMC Med Genomics] 2018 Dec 27; Vol. 11 (1), pp. 124. <i>Date of Electronic Publication: </i>2018 Dec 27. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101319628 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-8794 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217558794%22">17558794 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genomics |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30587166 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12920-018-0441-z Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 124 Titles: – TitleFull: Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Vado Y – PersonEntity: Name: NameFull: Errea-Dorronsoro J – PersonEntity: Name: NameFull: Llano-Rivas I – PersonEntity: Name: NameFull: Gorria N – PersonEntity: Name: NameFull: Pereda A – PersonEntity: Name: NameFull: Gener B – PersonEntity: Name: NameFull: Garcia-Naveda L – PersonEntity: Name: NameFull: Perez de Nanclares G IsPartOfRelationships: – BibEntity: Dates: – D: 27 M: 12 Text: 2018 Dec 27 Type: published Y: 2018 Identifiers: – Type: issn-electronic Value: 1755-8794 Numbering: – Type: volume Value: 11 – Type: issue Value: 1 Titles: – TitleFull: BMC medical genomics Type: main |
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