Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
[Analysis of a child with You-Hoover-Fong syndrome due to compound heterozygous variants of the TELO2 gene and a literature review].
Li P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer.
De Falco A et al.
American Journal of Medical Genetics. Part A, 2025
The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum.
Shokrollahi N et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
TTT (Tel2-Tti1-Tti2) Complex, the Co-Chaperone of PIKKs and a Potential Target for Cancer Chemotherapy.
Bhadra S et al.
International Journal of Molecular Sciences, 2023
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Albokhari D et al.
American Journal of Medical Genetics. Part A, 2023
Novel compound heterozygous mutations in TELO2 in an infant with You-Hoover-Fong syndrome: A case report and literature review.
Zhao Y et al.
Open Life Sciences, 2023
Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.
Denisova E et al.
Cancer Gene Therapy, 2022
Structure of the Human TELO2-TTI1-TTI2 Complex.
Kim Y et al.
Journal of Molecular Biology, 2022
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.
Ciaccio C et al.
European Journal of Medical Genetics, 2021
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.
Del-Prado-Sánchez C et al.
Ophthalmic Genetics, 2020
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
You J et al.
American Journal of Human Genetics, 2016