Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing

Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing

Combined pituitary hormone deficiency (CPHD) is not a rare disorder, with a frequency of approximately 1 case per 4,000 live births. However, in most cases, a genetic diagnosis is not available. Furthermore, the diagnosis is challenging because no clear correlation exists between the pituitary hormo...

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Bibliographic Details
Main Authors: Hironori Bando, Shin Urai, Keitaro Kanie, Yuriko Sasaki, Masaaki Yamamoto, Hidenori Fukuoka, Genzo Iguchi, Sally A. Camper
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Endocrinology
Subjects:
combined pituitary hormone deficiency
hypopituitarism
next-generation sequencing
pituitary development
genetic diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.1008306/full

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