Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) un...
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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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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The calcium-selective channel TRPV6 (transient receptor potential cation channel subfamily V member 6) is crucial for maternal-fetal calcium transport across the placenta. TRPV6 mutations have recently been associated with an antenatally severe under-mineralising skeletal dysplasia accompanied by postnatal biochemical abnormalities. This is the fir...
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Full 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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TN_cdi_doaj_primary_oai_doaj_org_article_633447845639456a9774bc1ed8d96bed
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_633447845639456a9774bc1ed8d96bed
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ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-020-01007-z
