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Article

TRPV6 Gene Mutation in a Dizygous Twin With Transient Neonatal Hyperparathyroidism

3 Jan 2019

Abstract excerpt

Maternal–fetal transport of calcium (Ca2+) is important for bone mineralization in fetal development. Insufficient Ca2+ transport causes transient neonatal hyperparathyroidism (TNHP). Transient receptor potential cation channel, subfamily V, member 6 (TRPV6), has been found to play an important role in the active transport of Ca2+ through the placenta. Recently, TRPV6 gene was found to be the gene responsible for...

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PMID: 30820485
DOI: 10.1210/js.2018-00374

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