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

Publication at First Faculty of Medicine, Faculty of Medicine in Pilsen |

2009

Abstract

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.

Keywords

Brooke-Spiegler syndrome novel germline intronic mutation leading intronic exonization diverse somatic mutations unusual histology

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

Abstract

Keywords

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