Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients

Similar Items

• Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families
  by: Omar I. Saadah, et al.
  Published: (2021-04-01)
• Novel MYO1D Missense Variant Identified Through Whole Exome Sequencing and Computational Biology Analysis Expands the Spectrum of Causal Genes of Laterality Defects
  by: Rabab Said Alsafwani, et al.
  Published: (2021-09-01)
• Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation
  by: Laura Mauring, et al.
  Published: (2020-08-01)
• Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen
  by: Zuhier Ahmed Awan, et al.
  Published: (2021-06-01)
• Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome
  by: Meng-Che Tsai, et al.
  Published: (2018-04-01)