Novel <i>TINF2</i> gene mutation in dyskeratosis congenita with extremely short telomeres: A case report-Reference-Cited by-同舟云学术

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Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report

Published:2022-11-26 Issue:33 Volume:10 Page:12440-12446
ISSN:2307-8960
Container-title:World Journal of Clinical Cases
language:
Short-container-title:World J Clin Cases

Author:

Picos-Cárdenas Verónica Judith,Beltrán-Ontiveros Saúl Armando,Cruz-Ramos José Alfonso,Contreras-Gutiérrez José Alfredo,Arámbula-Meraz Eliakym,Angulo-Rojo Carla,Guadrón-Llanos Alma Marlene,Leal-León Emir Adolfo,Cedano-Prieto Dora María,Meza-Espinoza Juan Pablo

Publisher

Baishideng Publishing Group Inc.

Subject

General Medicine

Reference16 articles.

1. Clinical utility gene card for: Dyskeratosis congenita – update 2015

2. TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

3. Savage SA, Niewisch MR. Dyskeratosis Congenita and Related Telomere Biology Disorders. 2009 Nov 12. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993

4. Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review

5. Dyskeratosis congenita as a disorder of telomere maintenance

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1. Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico;Frontiers in Genetics;2024-01-24

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