A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology. [electronic resource]
Producer: 20100203Description: 664-73 p. digitalISSN:- 1533-0311
- Carcinoma, Adenoid Cystic -- genetics
- DNA Mutational Analysis
- Deubiquitinating Enzyme CYLD
- Exons -- genetics
- Female
- Humans
- Introns -- genetics
- Loss of Heterozygosity
- Middle Aged
- Mutation
- Reverse Transcriptase Polymerase Chain Reaction
- Skin Neoplasms -- genetics
- Syndrome
- Tumor Suppressor Proteins -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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