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Article

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

The Turkish journal of pediatrics - 1 Jan 2023

He Min, Lian GuoLi, Hu HaiPeng, He Huan, Wang Miaomiao

Abstract excerpt

BACKGROUND: Telomeres inhibit DNA damage response at the ends of the chromosome to suppress cell cycle arrest as well as ensure genome stability. Dyskeratosis congenita (DC), a telomere-related disease, includes the classical triad involving oral leukoplakia, dysplastic nails, and lacy reticular pigment in the neck and/or upper chest. Hoyeraal-Hreidarrson syndrome (HHS), a severe manifestation of DC, frequently...

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PMID: 37853975
DOI: 10.24953/turkjped.2022.344

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Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.PMID 37853975Read ↗

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

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

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

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.Semantic proximity Read ↗

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

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.Semantic proximity Read ↗

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Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.Semantic proximity Read ↗

RTEL1: functions of a disease-associated helicase.Semantic proximity Read ↗

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

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenitaSemantic proximity Read ↗

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