TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

Transient receptor potential vanilloid 6 (TRPV6) functions in tetramer form for calcium transport. Until now, TRPV6 has not been linked with skeletal development disorders. An infant with antenatal onset thoracic insufficiency required significant ventilatory support. Skeletal survey showed generali...

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Detalles Bibliográficos
Autores principales: Burren, Christine P., Caswell, Richard, Castle, Bruce, Welch, C. Ross, Hilliard, Tom N., Smithson, Sarah F., Ellard, Sian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2018
Materias:
New Syndrome
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563443/
https://www.ncbi.nlm.nih.gov/pubmed/30144375
http://dx.doi.org/10.1002/ajmg.a.40484

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