TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.
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| Title: | TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton. |
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| Authors: | Burren CP; Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, United Kingdom., Caswell R; Institute of Biomedical and Clinical Science, University of Exeter, Exeter, United Kingdom., Castle B; Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom., Welch CR; Department of Fetomaternal Medicine, Derriford Hospital, Plymouth, United Kingdom., Hilliard TN; Department of Paediatric Respiratory Medicine, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Smithson SF; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, United Kingdom.; Department of Clinical Genetics, St Michaels Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Ellard S; Institute of Biomedical and Clinical Science, University of Exeter, Exeter, United Kingdom.; Department of Molecular Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2018 Sep; Vol. 176 (9), pp. 1950-1955. Date of Electronic Publication: 2018 Aug 25. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 30144375 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Burren+CP%22">Burren CP</searchLink>; Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Caswell+R%22">Caswell R</searchLink>; Institute of Biomedical and Clinical Science, University of Exeter, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Castle+B%22">Castle B</searchLink>; Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Welch+CR%22">Welch CR</searchLink>; Department of Fetomaternal Medicine, Derriford Hospital, Plymouth, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hilliard+TN%22">Hilliard TN</searchLink>; Department of Paediatric Respiratory Medicine, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Smithson+SF%22">Smithson SF</searchLink>; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, United Kingdom.; Department of Clinical Genetics, St Michaels Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ellard+S%22">Ellard S</searchLink>; Institute of Biomedical and Clinical Science, University of Exeter, Exeter, United Kingdom.; Department of Molecular Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2018 Sep; Vol. 176 (9), pp. 1950-1955. <i>Date of Electronic Publication: </i>2018 Aug 25. – 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="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30144375 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.40484 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1950 Titles: – TitleFull: TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Burren CP – PersonEntity: Name: NameFull: Caswell R – PersonEntity: Name: NameFull: Castle B – PersonEntity: Name: NameFull: Welch CR – PersonEntity: Name: NameFull: Hilliard TN – PersonEntity: Name: NameFull: Smithson SF – PersonEntity: Name: NameFull: Ellard S IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 09 Text: 2018 Sep Type: published Y: 2018 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 176 – Type: issue Value: 9 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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