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...

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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

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