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Congenital Isolated ACTH Deficiency Caused by TBX19 Gene Mutation: A Family Report

Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disorder that may be conducive to hypoglycemia, cholestasis, and seizures. We reported on two siblings with a homozygous mutation of the TBX19 gene, C.377 (exon2) C>T, p. P126L. Their parents had heterozygous mutations on...

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Detalles Bibliográficos
Autores principales: Peng, Cheng, Sun, Guoyu, Tang, Zezhong, Hou, Xinlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6967416/
https://www.ncbi.nlm.nih.gov/pubmed/31998673
http://dx.doi.org/10.3389/fped.2019.00546