A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita

DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism...

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Detalles Bibliográficos
Autores principales: Gerards, Judith, Ritter, Michael M, Kaminsky, Elke, Gal, Andreas, Hoeppner, Wolfgang, Quinkler, Marcus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2017
Materias:
New Disease or Syndrome: Presentations/Diagnosis/Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592710/
https://www.ncbi.nlm.nih.gov/pubmed/28924487
http://dx.doi.org/10.1530/EDM-17-0054

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592710/
https://www.ncbi.nlm.nih.gov/pubmed/28924487
http://dx.doi.org/10.1530/EDM-17-0054

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