Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability.
Özmansur EN et al.
Clinical Dysmorphology, 2022
The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients.
Ahmadnia N et al.
Iranian Journal of Child Neurology, 2021
Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.
Al-Amri A et al.
American Journal of Medical Genetics. Part A, 2016
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.
El Chehadeh S et al.
Jimd Reports, 2015
Genetics of recessive cognitive disorders.
Musante L et al.
Trends in Genetics : Tig, 2014
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
Garshasbi M et al.
American Journal of Medical Genetics. Part A, 2011
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