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Article

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.

Pediatric neurology - 1 Mar 2016

Burris Ashley M, Ballew Bari J, Kentosh Joshua B, Turner Clesson E, Norton Scott A, Giri Neelam, Alter Blanche P, Nellan Anandani, Gamper Christopher, Hartman Kip R, Savage Sharon A

Abstract excerpt

BACKGROUND: Hoyeraal-Hreidarsson syndrome is a dyskeratosis congenita-related telomere biology disorder that presents in infancy with intrauterine growth retardation, immunodeficiency, and cerebellar hypoplasia in addition to the triad of nail dysplasia, skin pigmentation, and oral leukoplakia. Individuals with Hoyeraal-Hreidarsson syndrome often develop bone marrow failure in early childhood. Germline mutations...

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Source

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Identifiers

PMID: 26810774
DOI: 10.1016/j.pediatrneurol.2015.12.005
PMCID: PMC4789174

Genes

PARN
ACD
DKC1
RTEL1
TERT
TINF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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