Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene

BACKGROUND: Birt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon and trichodiscoma; pulmonary lesions including spontaneous pneumothorax and...

Descripción completa

Detalles Bibliográficos
Autores principales: Hou, Xiaocan, Zhou, Yuan, Peng, Yun, Qiu, Rong, Xia, Kun, Tang, Beisha, Zhuang, Wei, Jiang, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776768/
https://www.ncbi.nlm.nih.gov/pubmed/29357828
http://dx.doi.org/10.1186/s12881-017-0519-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776768/
https://www.ncbi.nlm.nih.gov/pubmed/29357828
http://dx.doi.org/10.1186/s12881-017-0519-z

Ejemplares similares