Novel and Recurrent Germline and Somatic Mutations in a Cohort of 67 Patients From 48 Families With Brooke–Spiegler Syndrome Including the Phenotypic Variant of Multiple Familial Trichoepitheliomas and Correlation With the Histopathologic Findings in 379 Biopsy Specimens
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Title
Novel and Recurrent Germline and Somatic Mutations in a Cohort of 67 Patients From 48 Families With Brooke–Spiegler Syndrome Including the Phenotypic Variant of Multiple Familial Trichoepitheliomas and Correlation With the Histopathologic Findings in 379 Biopsy Specimens
Authors
Keywords
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Journal
AMERICAN JOURNAL OF DERMATOPATHOLOGY
Volume 35, Issue 1, Pages 34-44
Publisher
Ovid Technologies (Wolters Kluwer Health)
Online
2012-12-18
DOI
10.1097/dad.0b013e31824e7658
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Note: Only part of the references are listed.- Recurrent CYLD Nonsense Mutation Associated With a Severe, Disfiguring Phenotype in an African American Family With Multiple Familial Trichoepithelioma
- (2011) Konstantinos Linos et al. AMERICAN JOURNAL OF DERMATOPATHOLOGY
- Multiple (Familial) Trichoepitheliomas: A Clinicopathological and Molecular Biological Study, Including CYLD and PTCH Gene Analysis, of a Series of 16 Patients
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- Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes
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- Brooke-Spiegler Syndrome: Report of 10 Patients From 8 Families With Novel Germline Mutations
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- 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
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- Spectrum of Tumors With Follicular Differentiation in a Patient With the Clinical Phenotype of Multiple Familial Trichoepitheliomas: A Clinicopathological and Molecular Biological Study, Including Analysis of the CYLD and PTCH Genes
- (2009) Dmitry V Kazakov et al. AMERICAN JOURNAL OF DERMATOPATHOLOGY
- Morphologic Diversity of Malignant Neoplasms Arising in Preexisting Spiradenoma, Cylindroma, and Spiradenocylindroma Based on the Study of 24 Cases, Sporadic or Occurring in the Setting of Brooke-Spiegler Syndrome
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- (2009) S Nasti et al. CLINICAL GENETICS
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