Associated Papers
Transient neonatal hyperparathyroidism caused by a monoallelic TRPV6 dominant negative variant.
Lam Shang Leen J et al.
Jbmr Plus, 2026
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Caswell RC et al.
Genome Medicine, 2022
35869530 (PubMed )
Supplement: 13073_2022_1082_MOESM1_ESM.xlsx › Additional_file_1
Calcium selective channel TRPV6: Structure, function, and implications in health and disease.
Khattar V et al.
Gene, 2022
Mutations That Affect the Surface Expression of TRPV6 Are Associated with the Upregulation of Serine Proteases in the Placenta of an Infant.
Fecher-Trost C et al.
International Journal of Molecular Sciences, 2021
Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism.
Suzuki Y et al.
The Journal of Physiological Sciences : Jps, 2020
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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