TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism - 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; et al. (American journal of human genetics, 2018)
Keywords: Adult; autosomal recessive; Base Sequence; calcium; Calcium - metabolism; Calcium Channels - genetics; Female; Fetus - metabolism; HEK293 Cells; Humans; hyperparathyroidism; Hyperparathyroidism - blood; Hyperparathyroidism - diagnostic imaging; Hyperparathyroidism - genetics; Infant, Newborn; Ion Transport; Male; Maternal-Fetal Exchange; Mutation - genetics; neonatal; Pedigree; placenta; Placenta - metabolism; Pregnancy; skeletal; transient; TRPV Cation Channels - genetics; TRPV6; calcium; TRPV6; transient; skeletal; neonatal; placenta; hyperparathyroidism; autosomal recessive