Identification of a Novel Pathogenic Folliculin Variant in a Chinese Family With Birt–Hogg–Dubé Syndrome (Hornstein-Knickenberg Syndrome)

Birt–Hogg–Dubé syndrome (BHDS), which is also called Hornstein-Knickenberg syndrome (HKS), is a hereditary autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN, NM_144997). More pulmonary manifestations (pulmonary cysts and recurrent pneumothoraxes) but fewer skin fi...

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Detalles Bibliográficos
Autores principales: Zong, Dandan, Li, Jinhua, Liu, Xiangming, Guo, Ting, Ouyang, Ruoyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667195/
https://www.ncbi.nlm.nih.gov/pubmed/33240319
http://dx.doi.org/10.3389/fgene.2020.565566

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667195/
https://www.ncbi.nlm.nih.gov/pubmed/33240319
http://dx.doi.org/10.3389/fgene.2020.565566

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