Atlas of Genetics and Cytogenetics in Oncology and Haematology

@inproceedings{Tourdot2011AtlasOG,
  title={Atlas of Genetics and Cytogenetics in Oncology and Haematology},
  author={Richard W. Tourdot and Ravi Radhakrishnan},
  year={2011}
}
Onset of the disease is often noted during the second year of life: there is progressive cerebellar ataxia (initially truncal, with further peripheral extension); ataxia is a constant feature in this disease; oculomotor apraxia, dysarthria, and dystonia; leading to muscular atrophia. Telangiectasia: facial region exposed to sunlight, and eyes (conjunctiva). Combined immunodeficiency (in 70%): thymus hypoplasia, and IgG2 and 4, IgA, IgE deficiency. Other features: growth retardation… CONTINUE READING

References

Publications referenced by this paper.
SHOWING 1-10 OF 15 REFERENCES