Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families

• Main Authors: Omar I. Saadah (Author), Babajan Banaganapalli (Author), Naglaa M. Kamal (Author), Ahmed N. Sahly (Author), Hadeel A. Alsufyani (Author), Arif Mohammed (Author), Aftab Ahmad (Author), Khalidah Khalid Nasser (Author), Jumana Y. Al-Aama (Author), Noor Ahmad Shaik (Author), Ramu Elango (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease. The objective of this study was to characterize the genetic basis and...