THU232 Genetic Study In A Series Of 29 Triple A Syndrome Patients From 19 Sudanese Families - Identification Of Two Novel AAAS Mutations

Disclosure: K. Koehler: None. F. Quitter: None. D. Landgraf: None. E. Streiff: None. M.A. Abdullah: None. S.S. Hassan: None. A. Huebner: None. S.A. Musa: None. Triple A syndrome (MIM*231550) is a rare autosomal recessive multisystemic disorder characterized by adrenal insufficiency, achalasia, alacr...

Descripción completa

Detalles Bibliográficos
Autores principales: Koehler, Katrin, Quitter, Friederike, Landgraf, Dana, Streiff, Eliane, Abdullah, Mohamed A, Hassan, Samar S, Huebner, Angela, Musa, Salwa A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554108/
http://dx.doi.org/10.1210/jendso/bvad114.1481

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554108/
http://dx.doi.org/10.1210/jendso/bvad114.1481

Ejemplares similares