Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)
- 30 September 2003
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 162 (12) , 863-867
- https://doi.org/10.1007/s00431-003-1317-5
Abstract
No abstract availableKeywords
This publication has 21 references indexed in Scilit:
- Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine‐based reduced‐intensity conditioning regimenBritish Journal of Haematology, 2002
- Association between aplastic anaemia and mutations in telomerase RNAThe Lancet, 2002
- Telomerase in the human organismOncogene, 2002
- Increased Mortality Rate and Not Impaired Ribosomal Biogenesis is Responsible for Proliferative Defect in Dyskeratosis Congenita Cell LinesJournal of Investigative Dermatology, 2002
- A disease of premature ageingThe Lancet, 2001
- Familial Cerebellar Hypoplasia and Pancytopenia without Chromosomal BreakagesNeuropediatrics, 1998
- What are the essential symptoms in the Hoyeraal-Hreidarsson syndrome?1997
- The Hoyeraal-Hreidarsson syndrome: Don't forget the associated immunodeficiencyEuropean Journal of Pediatrics, 1995
- Dyskeratosis Congenita: Two Examples of This Multisystem DisorderPediatrics, 1983
- CONGENITAL HYPOPLASTIC THROMBOCYTOPENIA AND CEREBRAL MALFORMATIONS IN TWO BROTHERSActa Paediatrica, 1970