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Paper Details

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.
Pediatr Neurol
24
2016
ACD, DKC1, Hoyeraal-Hreidarsson Syndrome, Hoyeraal-Hreidarsson syndrome, PARN, PATIENT, RTEL1, TERT, TINF2, anonychia, bone marrow failure, central nervous system calcifications, cerebellar hypoplasia, congenital infection, cytopenias, developmental delay, dyskeratosis congenita-, esophageal and urethral stenosis, esophageal or urethral stenosis, hematopoietic cell, hip avascular necrosis, immunodeficiency, intrauterine growth retardation, microcephaly, myelodysplastic syndrome, nail dysplasia, oral leukoplakia, patient, skin pigmentation
Author NameAffiliation
Clesson TurnerWalter Reed National Military Medical Center
Sharon A SavageNational Cancer Institute
Sharon A SavageNational Cancer Institute
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Release 1.2