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A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections

INTRODUCTION: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD. CASE PRESENTATI...

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Detalles Bibliográficos
Autores principales: Akcan, Nese, Serakıncı, Nedime, Turkgenc, Burcu, Bundak, Ruveyde, Bahceciler, Nerin, Temel, Sehime G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394421/
https://www.ncbi.nlm.nih.gov/pubmed/28458651
http://dx.doi.org/10.3389/fendo.2017.00064