A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin

Isolated ACTH deficiency (IAD) is a life-threatening condition, particularly in the neonatal period, while a main consequence of undiagnosed isolated ACTH deficiency in survivors is cognitive impairment. TBX19 is involved in the differentiation and proliferation of corticotropic cells and TBX19 muta...

Descripción completa

Detalles Bibliográficos
Autores principales: Charnay, Théo, Mougel, Gregory, Amouroux, Cyril, Gueorguieva, Iva, Joubert, Florence, Pertuit, Morgane, Reynaud, Rachel, Barlier, Anne, Brue, Thierry, Saveanu, Alexandru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9987334/
https://www.ncbi.nlm.nih.gov/pubmed/36890856
http://dx.doi.org/10.3389/fendo.2022.1080649

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9987334/
https://www.ncbi.nlm.nih.gov/pubmed/36890856
http://dx.doi.org/10.3389/fendo.2022.1080649

Ejemplares similares