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A Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Caused by Two Novel Mutations in the TBX19 Gene

Congenital isolated adrenocorticotropic hormone (ACTH) deficiency (CIAD) is a rare disorder which can result in 20% mortality in the neonatal period if misdiagnosed. A 2 years and 7 months old boy was hospitalized many times because of recurrent hypoglycemia. On initial physical examination, the pat...

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Detalles Bibliográficos
Autores principales: Weijing, Kong, Liping, Zou, Tiantian, Zhang, Pei, Zhang, Yan, Meng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482258/
https://www.ncbi.nlm.nih.gov/pubmed/31057487
http://dx.doi.org/10.3389/fendo.2019.00251