首页> Cells> 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.

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第一作者： Amalia,Sertedaki

第一单位： Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, "Aghia Sophia" Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.

作者： Amalia,Sertedaki ^[1] ; Elizabeth Barbara,Tatsi ^[1] ; Ioannis Anargyros,Vasilakis ^[1] ; Irene,Fylaktou ^[1] ; Eirini,Nikaina ^[2] ; Nicoletta,Iacovidou ^[3] ; Tania,Siahanidou ^[2] ; Christina,Kanaka-Gantenbein ^[1]

作者单位： Division of Endocrinology, Diabetes and Metabolism, Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, "Aghia Sophia" Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece. ^[1] Neonatology Unit, First Department of Pediatrics, Medical School, "Aghia Sophia" Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece. ^[2] Department of Neonatology, Medical School, Aretaieion Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece. ^[3]

关键词 combined pituitary hormone deficiency congenital hypopituitarism hypogonadotropic hypogonadism pathogenic gene variants whole exome sequencing

医学主题词 DNA拷贝数变异(DNA Copy Number Variations);同源盒结构域蛋白质类(Homeodomain Proteins);人类(Humans);垂体功能减退症(Hypopituitarism);婴儿, 新生(Infant, Newborn)

DOI 10.3390/cells11132088

PMID 35805171

发布时间 2022-12-07

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