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Article

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

17 Jan 2013

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Share to DNA Repair Mechanisms
Share to Mitochondrial Function and Pathology
Share to Telomeres, Telomerase, and Senescence

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 23329068
DOI: 10.1007/s00439-013-1265-8

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Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenitaPMID 23329068Read ↗

Germline RTEL1 Variants in Telomere Biology Disorders.Semantic proximity Read ↗

Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome.Semantic proximity Read ↗

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.Semantic proximity Read ↗

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.Semantic proximity Read ↗

[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].Semantic proximity Read ↗

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.Semantic proximity Read ↗

An update on the biology and management of dyskeratosis congenita and related telomere biology disordersSemantic proximity Read ↗

Updates on the biology and management of dyskeratosis congenita and related telomere biology disordersSemantic proximity Read ↗

Telomerase RNA structure and function: implications for dyskeratosis congenita.Semantic proximity Read ↗

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.Semantic proximity Read ↗

Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.Semantic proximity Read ↗

Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.Semantic proximity Read ↗

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