Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome
Birt-Hogg-Dube syndrome (BHD, OMIM#135150) is a rare disease in clinic; it is characterized by skin fibrofolliculomas, pulmonary cysts with an increased risk of recurrent pneumothorax, renal cysts, and renal neoplasms. Previous studies have demonstrated that variants in folliculin (FLCN, NM_144997)...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hindawi Limited
2017-01-01
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| Series: | BioMed Research International |
| Online Access: | http://dx.doi.org/10.1155/2017/8751384 |