Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype-Reference-Cited by-同舟云学术

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Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype

Published:2015-10-08 Issue:6 Volume:32 Page:e263-e266
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Bakar Özgür¹,Işik Ugˇur²,Canpolat Cengiz³,Alanay Yasemin⁴

Affiliation:

1. Department of Dermatology; School of Medicine; Acibadem University; Istanbul Turkey

2. Division of Pediatric Neurology; School of Medicine; Acibadem University; Istanbul Turkey

3. Division of Pediatric Hematology and Oncology; School of Medicine; Acibadem University; Istanbul Turkey

4. Division of Pediatric Genetics; Department of Pediatrics; School of Medicine; Acibadem University; Istanbul Turkey

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12693/fullpdf

Reference13 articles.

1. What are the essential symptoms in the Hoyeraal-Hreidarsson syndrome?;Ohga;Eur J Pediatr,1997

2. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome;Marrone;Blood,2007

3. The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia;Aalfs;Eur J Pediatr,1995

4. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders;Ballew;Expert Rev Hematol,2013

5. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1;Knight;Br J Haematol,1999

Cited by 5 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 PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation;Journal of Biological Chemistry;2023-09

2. Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability;Frontiers in Oncology;2022-08-25

3. Regulation of human telomerase RNA biogenesis and localization;RNA Biology;2020-09-02

4. Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome;Molecular Syndromology;2019

5. TOE1 acts as a 3′ exonuclease for telomerase RNA and regulates telomere maintenance;Nucleic Acids Research;2018-10-29

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