Hoyeraal Hreidarsson Syndrome Latest Advances

Find the Latest Research About Hoyeraal Hreidarsson Syndrome

Last Updated: 09/26/2026

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Found 51 publications

Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.

Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.

Journal: The Israel Medical Association journal : IMAJ
Published: August 06, 2026

Rare somatic manifestations of telomere biology disorders.

Rare somatic manifestations of telomere biology disorders.

Journal: Seminars in hematology
Published: February 03, 2026

Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review

Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 26, 2025

Clinical and genetic characteristics of 6 cases of congenital dyskeratosis in children

Clinical and genetic characteristics of 6 cases of congenital dyskeratosis in children

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: November 13, 2025

De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome.

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

Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.

Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.

Journal: Nucleic acids research
Published: August 26, 2024

Germline RTEL1 Variants in Telomere Biology Disorders.

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.

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.

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

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.

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.

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.

Journal: Blood
Published: January 13, 2021
Showing 1-12 of 51

Last Updated: 09/26/2026