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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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.40484 |
