Associated Papers
Transient neonatal hyperparathyroidism caused by a monoallelic TRPV6 dominant negative variant.
Lam Shang Leen J et al.
Jbmr Plus, 2026
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.
Mason AE et al.
Bmc Medical Genetics, 2020
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.
Burren CP et al.
American Journal of Medical Genetics. Part A, 2018
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