Articles with "bhd syndrome" as a keyword



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Epidemiology and clinical features of Birt-Hogg-Dubé syndrome: A nationwide population-based study in South Korea

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Published in 2022 at "PLoS ONE"

DOI: 10.1371/journal.pone.0269358

Abstract: Background Birt–Hogg–Dubé (BHD) syndrome is an ultrarare lung disease with unclear prevalence and incidence. Our study aimed to identify the epidemiological and clinical features of BHD syndrome by using nationwide claims data from the Korean… read more here.

Keywords: birt hogg; hogg dub; bhd syndrome; epidemiology ... See more keywords
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Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dubé Syndrome and Congenital Contractural Arachnodactyly

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Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2021.768342

Abstract: Background: Birt-Hogg-Dubé (BHD) syndrome and congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome are clinically rare autosomal dominant genetic diseases. In this study, we describe an extremely rare family with BHD syndrome and CCA. Objective: To… read more here.

Keywords: birt hogg; hogg dub; family; syndrome congenital ... See more keywords