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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