Insights into genetic and clinical profiles of triple A syndrome in Sudanese children

Insights into genetic and clinical profiles of triple A syndrome in Sudanese children

IntroductionTriple A syndrome (OMIM*231550) is a rare autosomal recessive disorder characterized by achalasia, alacrima, adrenal insufficiency, and neurological features. It is caused by functional impairment of the nucleoporin ALADIN due to mutations in the AAAS gene. Limited data exists on triple...

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Main Authors: Salwa A. Musa, Mohamed A. Abdullah, Samar S. Hassan, Eliane Streiff, Franziska Lange, Omer O. Babiker, Areej A. Ibrahim, Hiba A. Elshafie, Angela Huebner, Katrin Koehler, Friederike Quitter
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Endocrinology
Subjects:
triple A syndrome
Allgrove syndrome
alacrima
achalasia
primary adrenal insufficiency
familial cases
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1617552/full
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