Novel mutation of the TINF2 gene resulting in severe phenotypic Revesz syndrome-Reference-Cited by-同舟云学术

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Novel mutation of the TINF2 gene resulting in severe phenotypic Revesz syndrome

Published:2018-11-26 Issue:3 Volume:66 Page:e27557
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatr Blood Cancer

Author:

Sakwit Anusak¹,Rojanaporn Duangnate²,Mekjaruskul Pimsiri³,Suriyajakryuththana Wiboon⁴,Sasanakul Werasak¹,Sirachainan Nongnuch¹^ORCID

Affiliation:

1. Department of Pediatrics; Faculty of Medicine Ramathibodi Hospital; Mahidol University; Bangkok Thailand

2. Department of Ophthalmology; Faculty of Medicine Ramathibodi Hospital; Mahidol University; Bangkok Thailand

3. Department of Pediatrics; Maharat Nakhon Ratchasima Hospital; Nakhon Ratchasima Thailand

4. Department of Radiology; Faculty of Medicine Ramathibodi Hospital; Mahidol University; Bangkok Thailand

Funder

Mahidol University

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pbc.27557/fullpdf

Reference8 articles.

1. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome;Revesz;J Med Gen,1992

2. Revesz syndrome;Riyaz;Indian J Pediatr,2007

3. Dyskeratosis congenita;Savage;Hematol Oncol Clin North Am,2009

4. Shelterin: the protein complex that shapes and safeguards human telomeres;Lange;Genes Dev,2005

5. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita;Savage;Am J Hum Genet,2008

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1. The Immunologic Complications and Genetic Origins of Telomere Biology Disorders;Reference Module in Life Sciences;2024

2. Telomeres: Dysfunction, Maintenance, Aging and Cancer;aging and disease;2023

3. Genetics of human telomere biology disorders;Nature Reviews Genetics;2022-09-23

4. Revesz syndrome revisited;Orphanet Journal of Rare Diseases;2020-10-23

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