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Difference between revisions of "Birt–Hogg–Dubé syndrome"
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Birt–Hogg–Dubé syndrome (view source)
Revision as of 04:29, 10 December 2015
, 04:29, 10 December 2015no edit summary
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[[Image:Unclassified renal cell carcinoma in BHD -- intermed mag.jpg | thumb|right|[[Renal cell carcinoma, unclassified]] in a case of Birt–Hogg–Dubé syndrome. [[H&E stain]]. (WC)]] | |||
'''Birt–Hogg–Dubé syndrome''', also '''Hornstein-Birt-Hogg-Dubé syndrome''',<ref name=pmid22581760>{{Cite journal | last1 = Happle | first1 = R. | title = Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration. | journal = Am J Med Genet A | volume = 158A | issue = 6 | pages = 1247-51 | month = Jun | year = 2012 | doi = 10.1002/ajmg.a.35330 | PMID = 22581760 }}</ref> is constellation of findings due to a FLCN (folliculin) gene mutation.<ref name=omim135150>{{OMIM|135150}}</ref> It is abbreviated '''BHD syndrome'''. | '''Birt–Hogg–Dubé syndrome''', also '''Hornstein-Birt-Hogg-Dubé syndrome''',<ref name=pmid22581760>{{Cite journal | last1 = Happle | first1 = R. | title = Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration. | journal = Am J Med Genet A | volume = 158A | issue = 6 | pages = 1247-51 | month = Jun | year = 2012 | doi = 10.1002/ajmg.a.35330 | PMID = 22581760 }}</ref> is constellation of findings due to a FLCN (folliculin) gene mutation.<ref name=omim135150>{{OMIM|135150}}</ref> It is abbreviated '''BHD syndrome'''. | ||