Article
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.
American journal of human genetics - 7 Jun 2018
Suzuki Yoshiro, Chitayat David, Sawada Hirotake, Deardorff Matthew A, McLaughlin Heather M, Begtrup Amber, Millar Kathryn, Harrington Jennifer, Chong Karen, Roifman Maian, Grand Katheryn, Tominaga Makoto, Takada Fumio, Shuster Shirley, Obara Megumi, Mutoh Hiroshi, Kushima Reiko, Nishimura Gen
Abstract excerpt
Transient neonatal hyperparathyroidism (TNHP) is etiologically a heterogeneous condition. One of the etiologies is an insufficient maternal-fetal calcium transport through the placenta. We report six subjects with homozygous and/or compound-heterozygous mutations in the gene encoding the transient receptor potential cation channel, subfamily V, member 6 (TRPV6), an epithelial Ca2+-selective channel associated...
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