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

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, David Grier, Sarah F. Smithson, Christine P. Burren, Elise Gradhand
Format: Article
Language:English
Published: BMC 2020-03-01
Series:BMC Medical Genetics
Subjects:
TRPV6 (transient receptor potential cation channel subfamily V member 6)
Skeletal dysplasia
Placental calcium transfer
Post-mortem
Online Access:http://link.springer.com/article/10.1186/s12881-020-01007-z

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http://link.springer.com/article/10.1186/s12881-020-01007-z

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