Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome-Reference-Cited by-同舟云学术

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Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome

Published:2017-07-28 Issue:5 Volume:5 Page:580-584
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Moosa Shahida¹^ORCID,Altmüller Janine²³,Lyngbye Troels⁴,Christensen Rikke⁵,Li Yun¹,Nürnberg Peter³,Yigit Gökhan¹,Vogel Ida⁵^ORCID,Wollnik Bernd¹

Affiliation:

1. Institute of Human Genetics; University Medical Center Göttingen; Göttingen Germany

2. Institute of Human Genetics; University of Cologne; Cologne Germany

3. Cologne Center for Genomics; University of Cologne; Cologne Germany

4. The Centre for Deafblindness and Hearing Loss; Aalborg Denmark

5. Department of Clinical Genetics; Aarhus University Hospital; Aarhus Denmark

Funder

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference1 articles.

1. A syndromic intellectual disability disorder caused by variants in TELO2, a gene encoding a component of the TTT complex;You;Am. J. Hum. Genet.,2016

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum;Neurological Sciences;2024-02-29

2. Exploring the Functional Roles of Telomere Maintenance 2 in the Tumorigenesis of Glioblastoma Multiforme and Drug Responsiveness to Temozolomide;International Journal of Molecular Sciences;2023-05-25

3. TTT (Tel2-Tti1-Tti2) Complex, the Co-Chaperone of PIKKs and a Potential Target for Cancer Chemotherapy;International Journal of Molecular Sciences;2023-05-05

4. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly;The American Journal of Human Genetics;2023-03

5. TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature;American Journal of Medical Genetics Part A;2023-02-16

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