Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome.

@article{Scheinfeld2003IdentificationOA,
  title={Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome.},
  author={Noah S. Scheinfeld and Guofang Hu and Melissa Gill and Craig N Austin and J{\"u}lide Tok Celebi},
  journal={Clinical and experimental dermatology},
  year={2003},
  volume={28 5},
  pages={539-41}
}
Brooke-Spiegler syndrome is an autosomal dominantly inherited disease with predisposition to neoplasms of the skin appendages. The disease has been mapped to 16q, and mutations in the CYLD gene have been identified in families with this disorder. We describe an individual with BSS exhibiting clinical heterogeneity in which a heterozygous frameshift mutation in CYLD, 2172delA, has been identified. These findings extend the body of evidence that mutations in CYLD are involved in Brooke-Spiegler… CONTINUE READING

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