Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family
Author:
Publisher
Frontiers Media SA
Subject
Genetics(clinical),Genetics,Molecular Medicine
Reference27 articles.
1. “Diagnostic and statistical manual of mental disorders,”,2013
2. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small tdhoraces;Baynam;Am. J. Med. Genet. A.,2015
3. Advances in understanding-genetic basis of intellectual disability;Chiurazzi;F1000Res,2016
4. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia;Concannon;Hum. Mutat.,1997
5. Genetic evidence links the ASTRA protein chaperone component tti2 to the SAGA transcription factor tra1;Genereaux;Genetics,2012
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1. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly;The American Journal of Human Genetics;2023-03
2. Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report);Case Reports in Genetics;2022-08-12
3. Trastorno de discapacidad intelectual y del neurodesarrollo asociado a TELO2 o síndrome de You-Hoover-Fong;Anales de Pediatría;2021-04
4. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant;European Journal of Medical Genetics;2021-01
5. Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report;BMC Neurology;2020-02-15
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