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

Abstract Background 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 dysplas...

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Bibliographic Details
Main Authors: Anna E. Mason (Author), David Grier (Author), Sarah F. Smithson (Author), Christine P. Burren (Author), Elise Gradhand (Author)
Format: Book
Published: BMC, 2020-03-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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