Scientific Research
The following sections have recently underwent major updates: Clinical Phenotype (Disease Description), Molecular Biology (Disease Description), Patient Care and Treatment, according to the new reports of:
- the third case of association between perineal region rhabdomyosarcoma and NBS;
- aplastic anemia in a girl with a homozygous I171V mutation of the NBS1 gene;
- 3 families of Pakistani origin with a novel NBS1 gene mutation, and a phenotype overlapping both NBS and Fanconi anemia;
- the first instance of the use of Bone Marrow Transplantation for NBS.
Moreover, due to large amount of literature produced and dealing with the frequency of NBS1 gene mutation carriers among cancer patient, an extensive review is provided which includes all mutations and polymorphisms of the coding sequence of the NBS1 gene identified to date.