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Last Updated: 10/31/2025
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Found 47 publications
De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome.
Journal: American journal of medical genetics. Part A
Published: February 03, 2025
Germline RTEL1 Variants in Telomere Biology Disorders.
Journal: American journal of medical genetics. Part A
Published: June 21, 2024
Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.
Journal: The Turkish journal of pediatrics
Published: October 19, 2023
Neonatal intestinal obstruction in Hoyeraal-Hreidarsson syndrome with novel RTEL1 variants.
Journal: Pediatric blood & cancer
Published: November 03, 2022
Hoyeraal-Hreidarsson syndrome with combined immunodeficiency and enterocolitis caused by a DCK1 gene variant
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: March 03, 2022
Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.
Journal: American journal of medical genetics. Part A
Published: August 05, 2021
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
Journal: Blood
Published: January 13, 2021
Brain imaging features of children with Hoyeraal-Hreidarsson syndrome.
Journal: Brain and behavior
Published: November 12, 2020
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Journal: Human genetics
Published: October 05, 2020
Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase.
Journal: Nucleic acids research
Published: December 29, 2019
Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome.
Journal: Cell death & disease
Published: November 14, 2019
Last Updated: 10/31/2025