Associated Papers
A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability.
Özmansur EN et al.
Clinical Dysmorphology, 2022
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Munnich A et al.
Molecular Autism, 2019
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
Association of TUSC3 gene polymorphisms with non-syndromic mental retardation based on nuclear families in the Qinba mountain area of China.
Zhang MJ et al.
Genetics and Molecular Research : Gmr, 2015
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
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
Molinari F et al.
American Journal of Human Genetics, 2008
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