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

P. Grossmann; T. Vanecek; P. Steiner; D. Kacerovska; Dominic Spagnolo; B. Cribier; C. Rose; M. Vazmitel; J.A. Carlson; M. Emberger; P. Martinek; R.L. Pearce; J. Pearn; M. Michal; D.V. Kazakov

doi:10.1097/DAD.0b013e31824e7658

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

P. Grossmann, T. Vanecek, P. Steiner, D. Kacerovska, Dominic Spagnolo, B. Cribier, C. Rose, M. Vazmitel, J.A. Carlson, M. Emberger, P. Martinek, R.L. Pearce, J. Pearn, M. Michal, D.V. Kazakov

Research output: Contribution to journal › Article › peer-review

35 Citations (Scopus)

Original language	English
Pages (from-to)	34-44
Journal	American Journal of Dermatopathology
Volume	35
Issue number	1
DOIs	https://doi.org/10.1097/DAD.0b013e31824e7658
Publication status	Published - 2013

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10.1097/DAD.0b013e31824e7658

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Grossmann, P., Vanecek, T., Steiner, P., Kacerovska, D., Spagnolo, D., Cribier, B., Rose, C., Vazmitel, M., Carlson, J. A., Emberger, M., Martinek, P., Pearce, R. L., Pearn, J., Michal, M., & Kazakov, D. V. (2013). 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. American Journal of Dermatopathology, 35(1), 34-44. https://doi.org/10.1097/DAD.0b013e31824e7658

Grossmann, P. ; Vanecek, T. ; Steiner, P. et al. / 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. In: American Journal of Dermatopathology. 2013 ; Vol. 35, No. 1. pp. 34-44.

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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",

author = "P. Grossmann and T. Vanecek and P. Steiner and D. Kacerovska and Dominic Spagnolo and B. Cribier and C. Rose and M. Vazmitel and J.A. Carlson and M. Emberger and P. Martinek and R.L. Pearce and J. Pearn and M. Michal and D.V. Kazakov",

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Grossmann, P, Vanecek, T, Steiner, P, Kacerovska, D, Spagnolo, D, Cribier, B, Rose, C, Vazmitel, M, Carlson, JA, Emberger, M, Martinek, P, Pearce, RL, Pearn, J, Michal, M & Kazakov, DV 2013, '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', American Journal of Dermatopathology, vol. 35, no. 1, pp. 34-44. https://doi.org/10.1097/DAD.0b013e31824e7658

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. / Grossmann, P.; Vanecek, T.; Steiner, P. et al.
In: American Journal of Dermatopathology, Vol. 35, No. 1, 2013, p. 34-44.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - 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

AU - Grossmann, P.

AU - Vanecek, T.

AU - Steiner, P.

AU - Kacerovska, D.

AU - Spagnolo, Dominic

AU - Cribier, B.

AU - Rose, C.

AU - Vazmitel, M.

AU - Carlson, J.A.

AU - Emberger, M.

AU - Martinek, P.

AU - Pearce, R.L.

AU - Pearn, J.

AU - Michal, M.

AU - Kazakov, D.V.

PY - 2013

Y1 - 2013

U2 - 10.1097/DAD.0b013e31824e7658

DO - 10.1097/DAD.0b013e31824e7658

M3 - Article

SN - 0193-1091

VL - 35

SP - 34

EP - 44

JO - American Journal of Dermatopathology

JF - American Journal of Dermatopathology

IS - 1

ER -

Grossmann P, Vanecek T, Steiner P, Kacerovska D, Spagnolo D, Cribier B et al. 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. American Journal of Dermatopathology. 2013;35(1):34-44. doi: 10.1097/DAD.0b013e31824e7658