Birt-Hogg-Dube Syndrome (BHDS)

Birt Hogg Dube syndrome is an autosomal dominant genodermatosis, usually manifesting in the third decade of life with multiple fibrofolliculomas, trichodiscomas, and acrochordons. Patients with this syndrome have an increased susceptibility to develop renal cell carcinoma, lung cysts, and spontaneous pneumothorax.

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Differential mTORC1 pathways in BHD

A study in Nature has shed light on the mechanisms underlying the pathogenesis of Birt–Hogg–Dubé (BHD) syndrome, an autosomal dominant…

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Living with BHD – Birt-Hogg-Dubé syndrome 01/10 by Powerful Patient

Broadcast in Health Thu, Jan 10, 2013 08:00PM UTC h:47822s:4220235archived Jean…

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Folliculin haploinsufficiency causes cellular dysfunction of pleural mesothelial cells

DesignPatients with BHDS (n = 12) or PSP (n = 20) who experienced SP at Juntendo University Hospital, Tokyo Metropolitan Bokutoh Hospital, or Tamagawa…

Hiroki Ebana Hiroki Ebana
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Unknown COL5A1 mutation found in man with classical EDS symptoms

A young man with an unusual combination of Birt-Hogg-Dubé syndrome, a rare…

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Folliculin haploinsufficiency causes cellular dysfunction of pleural mesothelial cells

DesignPatients with BHDS (n = 12) or PSP (n = 20) who experienced SP at Juntendo…

Hiroki Ebana Hiroki Ebana

Differential mTORC1 pathways in BHD

A study in Nature has shed light on the mechanisms underlying the…

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Birt-Hogg-Dubé syndrome (BHDS) is a genetic disorder that increases the risk of…

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