Egyptian Journal of Medical Human Genetics is the official journal of The Egyptian Societies of Medical Human Genetics.
Novel TRPV6 variant linked with transient neonatal hyperparathyroidism
Hereditary transient neonatal hyperparathyroidism (TNHP) is a rare autosomal-recessive condition caused by variants in TRPV6 gene which encodes for a transient maternal–fetal calcium transport channel. This is...