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

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 dysplasia accom...

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Detalles Bibliográficos
Autores principales: Mason, Anna E., Grier, David, Smithson, Sarah F., Burren, Christine P., Gradhand, Elise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106792/
https://www.ncbi.nlm.nih.gov/pubmed/32228492
http://dx.doi.org/10.1186/s12881-020-01007-z

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