Cataract in You-Hoover-Fong syndrome: TELO2 deficiency-Reference-Cited by-同舟云学术

Cataract in You-Hoover-Fong syndrome: TELO2 deficiency

Published:2020-09-17 Issue:6 Volume:41 Page:656-658
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Del-Prado-Sánchez Cristina¹^ORCID,Armstrong-Moron Judith²,Veiga Carla¹,Grixolli-Mazzon Stefano¹,García-Cazorla Àngels³,Juliá-Palacios Natalia³,Morales-Ballús Marta¹

Affiliation:

1. Ophthalmology Department, Sant Joan de deu Hospital, Barcelona, Spain

2. Genetic Department, Sant Joan de deu Hospital, Barcelona, Spain

3. NeurometabolicUnit. Neurology Department, IPR CIBERER and MetabERN. Sant Joan De Deu Hospital, Barcelona, Spain

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1821382

Reference3 articles.

1. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2 , a Gene Encoding a Component of the TTT Complex

2. An update on progress and the changing epidemiology of causes of childhood blindness worldwide

3. Global prevalence of childhood cataract: a systematic review

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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. 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

3. 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

4. Novel compound heterozygous mutations in TELO2 in an infant with You-Hoover-Fong syndrome: A case report and literature review;Open Life Sciences;2023-01-01

5. CLK-2/TEL2 is a conserved component of the nonsense-mediated mRNA decay pathway;PLOS ONE;2021-01-14