Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency

SUMMARY: Congenital isolated ACTH deficiency (IAD) is a rare condition characterised by low plasma ACTH and serum cortisol with normal production of other pituitary hormones. TBX19 (also known as TPIT) is a T-box pituitary restricted transcription factor important for POMC gene transcription and ter...

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Detalles Bibliográficos
Autores principales: Maudhoo, Ashwini, Maharaj, Avinaash, Buonocore, Federica, Martos-Moreno, Gabriel Angel, Argente, Jesús, Achermann, John C, Chan, Li F, Metherell, Lou A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8495723/
https://www.ncbi.nlm.nih.gov/pubmed/34564059
http://dx.doi.org/10.1530/EDM-21-0128

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