Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy-Reference-Cited by-同舟云学术

Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy

Published:2014-07-25 Issue:12 Volume:61 Page:2302-2304
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatr Blood Cancer

Author:

Sharma Akshay¹,Myers Kasiani²,Ye Zhan³,D'Orazio John¹

Affiliation:

1. Department of Pediatrics; University of Kentucky College of Medicine; Lexington Kentucky

2. Division of Bone Marrow Transplantation and Immune Deficiency; Cincinnati Children's Hospital Medical Center and University of Cincinnati; Cincinnati Ohio

3. Department of Pathology; University of Kentucky College of Medicine; Lexington Kentucky

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pbc.25161/fullpdf

Reference20 articles.

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

2. The genetics of dyskeratosis congenita;Mason;Cancer Genet,2011

3. Dyskeratosis congenita: A genetic disorder of many faces;Kirwan;Clin Genet,2008

4. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: A new syndrome;Revesz;J Med Genet,1992

5. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita;Alter;Blood,2007

Cited by 18 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 Masquerading Retinopathy of Revesz Syndrome;Ophthalmic Surgery, Lasers and Imaging Retina;2022-06

2. Pulmonary fibrosis associated with telomere‐related gene mutations: A complex inheritance;Respirology;2021-10-06

3. Pulmonary fibrosis in non‐mutation carriers of families with short telomere syndrome gene mutations;Respirology;2021-09-27

4. Revesz syndrome with bilateral retinal detachments successfully treated by pars plana vitrectomy;American Journal of Ophthalmology Case Reports;2021-09

5. Reduced‐intensity conditioning–based hematopoietic cell transplantation for dyskeratosis congenita: Single‐center experience and literature review;Pediatric Blood & Cancer;2021-06-04