Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis

Introduction: Triple-A syndrome (Triple-A) is an autosomal recessive disorder characterized by alacrimia, achalasia, and adrenal insufficiency. Several variants on the AAAS gene have been described, and some variants are clustered in particular geographical areas, such as the c.1331+1G>A variant...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Molecular syndromology 2024-03, Vol.15 (2), p.96-103
Hauptverfasser:	Belmokhtar, Karam Yahya, Cherkaoui, Imane, Lhousni, Saida, Elidrissi Errahhali, Mounia, Elidrissi Errahhali, Manal, Charif, Majida, Boulouiz, Redouane, Ouarzane, Meryem, Elouali, Aziza, Ghanam, Ayad, Babakhouya, Abdeladim, Rkain, Maria, Benajiba, Noufissa, Bellaoui, Mohammed
Format:	Artikel
Sprache:	eng
Schlagworte:	Original Original Article
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!