Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency

Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency

Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus, and/or pituitary have been identified so far to cause genetic...

Full description

Bibliographic Details
Main Authors: Amalia Sertedaki, Elizabeth Barbara Tatsi, Ioannis Anargyros Vasilakis, Irene Fylaktou, Eirini Nikaina, Nicoletta Iacovidou, Tania Siahanidou, Christina Kanaka-Gantenbein
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Cells
Subjects:
combined pituitary hormone deficiency
congenital hypopituitarism
hypogonadotropic hypogonadism
whole exome sequencing
pathogenic gene variants
Online Access:https://www.mdpi.com/2073-4409/11/13/2088

Internet

https://www.mdpi.com/2073-4409/11/13/2088

Similar Items