EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma.

@article{Akahoshi2003EECST,
  title={EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma.},
  author={Keiko Akahoshi and Satoru Sakazume and Kenjiro Kosaki and Hirofumi Ohashi and Yoshimitsu Fukushima},
  journal={American journal of medical genetics. Part A},
  year={2003},
  volume={120A 3},
  pages={370-3}
}
Lines of evidence have recently indicated a relationship between mutations in the P63 gene and ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome type 3 (EEC3). The p63 gene (P63) has homology to P53 known as a tumor-suppressor gene, but biological function of its protein has not yet been known well. There have been two reported patients who had EEC syndrome associated with malignant lymphoma. However, they did not undergo sequencing analysis of P63. Here, we present with a Japanese girl… CONTINUE READING

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