Birt-Hogg-Dubé Syndrome: Report of a New Mutation
Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis caused by germline mutations in the folliculin gene and characterized by facial papules, pulmonary cysts, kidney tumours and recurrent pneumothoraces. Several distinct mutations in the folliculin gene resulting in a truncated protein ha...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Canadian Respiratory Journal |
| Online Access: | http://dx.doi.org/10.1155/2012/734985 |
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| _version_ | 1832567406012137472 |
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| author | Habib U Rehman |
| author_facet | Habib U Rehman |
| author_sort | Habib U Rehman |
| collection | DOAJ |
| description | Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis caused by germline mutations in the folliculin gene and characterized by facial papules, pulmonary cysts, kidney tumours and recurrent pneumothoraces. Several distinct mutations in the folliculin gene resulting in a truncated protein have been described. The present report describes a new mutation, which has not been reported in individuals with Birt-Hogg-Dubé syndrome but is of a type predicted to cause disease. |
| format | Article |
| id | doaj-art-d12d2d1fb2bd4caab194eb67e1ad0fde |
| institution | Kabale University |
| issn | 1198-2241 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Canadian Respiratory Journal |
| spelling | doaj-art-d12d2d1fb2bd4caab194eb67e1ad0fde2025-02-03T01:01:35ZengWileyCanadian Respiratory Journal1198-22412012-01-0119319319510.1155/2012/734985Birt-Hogg-Dubé Syndrome: Report of a New MutationHabib U Rehman0Regina Qu’Appelle Health Region, Regina, Saskatchewan, CanadaBirt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis caused by germline mutations in the folliculin gene and characterized by facial papules, pulmonary cysts, kidney tumours and recurrent pneumothoraces. Several distinct mutations in the folliculin gene resulting in a truncated protein have been described. The present report describes a new mutation, which has not been reported in individuals with Birt-Hogg-Dubé syndrome but is of a type predicted to cause disease.http://dx.doi.org/10.1155/2012/734985 |
| spellingShingle | Habib U Rehman Birt-Hogg-Dubé Syndrome: Report of a New Mutation Canadian Respiratory Journal |
| title | Birt-Hogg-Dubé Syndrome: Report of a New Mutation |
| title_full | Birt-Hogg-Dubé Syndrome: Report of a New Mutation |
| title_fullStr | Birt-Hogg-Dubé Syndrome: Report of a New Mutation |
| title_full_unstemmed | Birt-Hogg-Dubé Syndrome: Report of a New Mutation |
| title_short | Birt-Hogg-Dubé Syndrome: Report of a New Mutation |
| title_sort | birt hogg dube syndrome report of a new mutation |
| url | http://dx.doi.org/10.1155/2012/734985 |
| work_keys_str_mv | AT habiburehman birthoggdubesyndromereportofanewmutation |