Hoyeraal Hreidarsson Syndrome Latest Advances
Find the Latest Research About Hoyeraal Hreidarsson Syndrome
Last Updated: 06/30/2026
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Found 50 publications
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
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
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.
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
Last Updated: 06/30/2026