Associated Papers
Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report).
Qarnain Z et al.
Case Reports in Genetics, 2022
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L et al.
Orphanet Journal of Rare Diseases, 2020
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.
Picher-Martel V et al.
Bmc Neurology, 2020
Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family.
Wang R et al.
Frontiers in Genetics, 2019
Genetics of recessive cognitive disorders.
Musante L et al.
Trends in Genetics : Tig, 2014
Mutation in TTI2 reveals a role for triple T complex in human brain development.
Langouët M et al.
Human Mutation, 2013
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H et al.
Nature, 2011
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