Associated Papers
Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.
Abosabie SAS et al.
Molecular Genetics & Genomic Medicine, 2024
Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.
Saadah OI et al.
Frontiers in Pediatrics, 2021
Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.
Kamal NM et al.
Saudi Journal of Biological Sciences, 2020
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Select a paper to view details