Disease: Microcephaly developmental delay pancytopenia
- A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay
- A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes
- Allogeneic hematopoietic stem cell transplantation corrects ligase IV deficiency
- Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature
- Fanconi Anemia
- Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene--Case Report
- The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia
- The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia