Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report.
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| Title: | Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report. |
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| Authors: | Mason AE; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, UK., Grier D; Department of Radiology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Smithson SF; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, UK.; Department of Clinical Genetics, St Michaels Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Burren CP; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, UK.; Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Gradhand E; Severn Pathology, Paediatric and Perinatal Pathology, Southmead Hospital, North Bristol NHS Trust, Bristol, UK. Elise.Gradhand@kgu.de.; Dr. Senckenberg. Institut für Pathologie, Universitätsklinikum Frankfurt/Main, Theodor-Stern-Kai 7, 60590, Frankfurt, Germany. Elise.Gradhand@kgu.de. |
| Source: | BMC medical genetics [BMC Med Genet] 2020 Mar 30; Vol. 21 (1), pp. 64. Date of Electronic Publication: 2020 Mar 30. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 32228492 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Mason+AE%22">Mason AE</searchLink>; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Grier+D%22">Grier D</searchLink>; Department of Radiology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Smithson+SF%22">Smithson SF</searchLink>; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, UK.; Department of Clinical Genetics, St Michaels Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Burren+CP%22">Burren CP</searchLink>; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, UK.; Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Gradhand+E%22">Gradhand E</searchLink>; Severn Pathology, Paediatric and Perinatal Pathology, Southmead Hospital, North Bristol NHS Trust, Bristol, UK. Elise.Gradhand@kgu.de.; Dr. Senckenberg. Institut für Pathologie, Universitätsklinikum Frankfurt/Main, Theodor-Stern-Kai 7, 60590, Frankfurt, Germany. Elise.Gradhand@kgu.de. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22100968552%22">BMC medical genetics</searchLink> [BMC Med Genet] 2020 Mar 30; Vol. 21 (1), pp. 64. <i>Date of Electronic Publication: </i>2020 Mar 30. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – 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>100968552 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2350 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712350%22">14712350 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=32228492 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12881-020-01007-z Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 64 Titles: – TitleFull: Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Mason AE – PersonEntity: Name: NameFull: Grier D – PersonEntity: Name: NameFull: Smithson SF – PersonEntity: Name: NameFull: Burren CP – PersonEntity: Name: NameFull: Gradhand E IsPartOfRelationships: – BibEntity: Dates: – D: 30 M: 03 Text: 2020 Mar 30 Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 1471-2350 Numbering: – Type: volume Value: 21 – Type: issue Value: 1 Titles: – TitleFull: BMC medical genetics Type: main |
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