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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...

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Detalles Bibliográficos
Autores principales: Sertedaki, Amalia, Tatsi, Elizabeth Barbara, Vasilakis, Ioannis Anargyros, Fylaktou, Irene, Nikaina, Eirini, Iacovidou, Nicoletta, Siahanidou, Tania, Kanaka-Gantenbein, Christina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9265573/
https://www.ncbi.nlm.nih.gov/pubmed/35805171
http://dx.doi.org/10.3390/cells11132088

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