Associated Papers
Portrait of autosomal recessive diseases in the French-Canadian founder population of Saguenay-Lac-Saint-Jean.
Cruz Marino T et al.
American Journal of Medical Genetics. Part A, 2023
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
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
Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.
Ziegler A et al.
Clinical Genetics, 2019
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