Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report

• Auteurs principaux: H. Berrani (Auteur), T. Meskini (Auteur), M. Zerkaoui (Auteur), H. Merhni (Auteur), S. Ettair (Auteur), A. Sefiani (Auteur), N. Mouane (Auteur)
• Format: Livre
• Publié: BMC, 2018-06-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described i...