Article
Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism.
The journal of physiological sciences : JPS - 9 Jul 2020
Suzuki Yoshiro, Sawada Hirotake, Tokumasu Tomoko, Suzuki Shigeru, Ninomiya Shinsuke, Shirai Masaru, Mukai Tokuo, Saito Claire T, Nishimura Gen, Tominaga Makoto
Abstract excerpt
Maternal-fetal calcium (Ca2+) transport in the placenta plays a critical role in maintaining fetal bone mineralization. Mutations in the gene encoding the transient receptor potential cation channel, subfamily V, member 6 (TRPV6) have been identified as causative mutations of transient neonatal hyperparathyroidism due to insufficient maternal-fetal Ca2+ transport in the placenta. In this study, we found two novel...
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