New Mutation in the Birt Hogg Dube Gene

L Sempau; I Ruiz; A González-Morán; X Susanna; T V O Hansen

doi:10.1016/j.ad.2010.03.007

New Mutation in the Birt Hogg Dube Gene

L Sempau
, I Ruiz
, A González-Morán
, X Susanna
, T V O Hansen

8 Citationer (Scopus)

Abstract

Patients with Birt-Hogg-Dube syndrome have an increased risk of developing hamartomas of the pilosebaceous unit, renal tumors of various types, lung cysts, and spontaneous pneumothorax. We present the case of a 54-year-old woman with a long history of whitish papules in the central region of the face and a family history of similar lesions. Biopsy and genetic study revealed a new mutation of the gene involved in Birt-Hogg-Dube syndrome.

Originalsprog	Engelsk
Tidsskrift	Actas dermo-sifiliograficas
Vol/bind	101
Udgave nummer	7
Sider (fra-til)	637-640
Antal sider	4
ISSN	0001-7310
DOI	https://doi.org/10.1016/j.ad.2010.03.007
Status	Udgivet - sep. 2010
Udgivet eksternt	Ja

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10.1016/j.ad.2010.03.007

Citationsformater

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abstract = "Patients with Birt-Hogg-Dube syndrome have an increased risk of developing hamartomas of the pilosebaceous unit, renal tumors of various types, lung cysts, and spontaneous pneumothorax. We present the case of a 54-year-old woman with a long history of whitish papules in the central region of the face and a family history of similar lesions. Biopsy and genetic study revealed a new mutation of the gene involved in Birt-Hogg-Dube syndrome.",

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AU - Sempau, L

AU - Ruiz, I

AU - González-Morán, A

AU - Susanna, X

AU - Hansen, T V O

PY - 2010/9

Y1 - 2010/9

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AB - Patients with Birt-Hogg-Dube syndrome have an increased risk of developing hamartomas of the pilosebaceous unit, renal tumors of various types, lung cysts, and spontaneous pneumothorax. We present the case of a 54-year-old woman with a long history of whitish papules in the central region of the face and a family history of similar lesions. Biopsy and genetic study revealed a new mutation of the gene involved in Birt-Hogg-Dube syndrome.

U2 - 10.1016/j.ad.2010.03.007

DO - 10.1016/j.ad.2010.03.007

M3 - Journal article

C2 - 28709546

SN - 0001-7310

VL - 101

SP - 637

EP - 640

JO - Actas dermo-sifiliograficas

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ER -

New Mutation in the Birt Hogg Dube Gene

Abstract

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