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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Detalles Bibliográficos
Autores principales: Bando, Hironori, Urai, Shin, Kanie, Keitaro, Sasaki, Yuriko, Yamamoto, Masaaki, Fukuoka, Hidenori, Iguchi, Genzo, Camper, Sally A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9551393/
https://www.ncbi.nlm.nih.gov/pubmed/36237189
http://dx.doi.org/10.3389/fendo.2022.1008306

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9551393/
https://www.ncbi.nlm.nih.gov/pubmed/36237189
http://dx.doi.org/10.3389/fendo.2022.1008306

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