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References from A Novel Pathogenic Variant in RTEL1 Causes Dyskeratosis Congenita/Hoyeraal-Hreidarsson Syndrome: A Report of Two Cases. Local targets link to admitted publications; unresolved targets remain external evidence.
Dyskeratosis congenita.
10.1001/archderm.1956.01550020023004 · 1956 · External reference
Dyskeratosis congenita (DC) registry: identification of new features of DC.
10.1046/j.1365-2141.1998.01103.x · 1998 · External reference
Telomerase mutations in families with idiopathic pulmonary fibrosis.
10.1056/nejmoa066157 · 2007 · External reference
Cancer in dyskeratosis congenita.
10.1182/blood-2008-12-192880 · 2009 · External reference
A spectrum of severe familial liver disorders associate with telomerase mutations.
10.1371/journal.pone.0007926 · 2009 · External reference
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.
10.1182/blood-2007-02-075598 · 2007 · External reference
Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers.
10.1111/j.1651-2227.1970.tb08986.x · 1970 · External reference
A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure.
10.1111/j.1651-2227.1988.tb10751.x · 1988 · External reference
An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.
10.1080/17474086.2019.1662720 · 2019 · External reference
The unmasking of telomerase.
10.1016/j.str.2006.09.004 · 2006 · External reference
RTEL1: an essential helicase for telomere maintenance and the regulation of homologous recombination.
10.1093/nar/gkq1045 · 2011 · External reference
Genetics of human telomere biology disorders.
10.1038/s41576-022-00527-z · 2023 · External reference
Regulator of telomere elongation helicase 1 gene and its association with malignancy.
2023 · External reference
The many faces of the helicase RTEL1 at telomeres and beyond.
10.1016/j.tcb.2023.07.002 · 2024 · External reference
Clinical and molecular heterogeneity of RTEL1 deficiency.
10.3389/fimmu.2017.00449 · 2017 · External reference
Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome.
10.1111/cge.12175 · 2013 · External reference
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
10.1371/journal.pgen.1003695 · 2013 · External reference
Diagnostic utility of telomere length testing in a hospital-based setting.
10.1073/pnas.1720427115 · 2018 · External reference
Dyskeratosis congenita in all its forms.
10.1046/j.1365-2141.2000.02109.x · 2000 · External reference
The gastrointestinal manifestations of telomere-mediated disease.
10.1111/acel.12041 · 2013 · External reference
An RTEL1 mutation links to infantile-onset ulcerative colitis and severe immunodeficiency.
10.1007/s10875-020-00829-z · 2020 · External reference
Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita.
10.1182/blood-2004-04-1673 · 2005 · External reference
Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum: a single-center pediatric experience.
10.1111/j.1399-3038.2010.01136.x · 2011 · External reference
Clinical and molecular features of immunodeficiency in patients with telomere biology disorders.
10.1182/blood.2024026735 · 2025 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
10.1038/gim.2015.30 · 2015 · External reference
The mutational constraint spectrum quantified from variation in 141,456 humans.
10.1038/s41586-020-2308-7 · 2020 · External reference
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
10.1016/j.ajhg.2022.10.013 · 2022 · External reference
Publication of second edition telomere biology disorders: diagnosis and management guidelines.
10.1182/blood-2022-171040 · 2022 · External reference
