Toshiyuki Kobayashi

No ORCID on file · 1 paper in corpus
other 2010
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature
Journal of medical genetics ·doi:10.1136/jmg.2009.070565

BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is an inherited autosomal genodermatosis characterised by fibrofolliculomas of the skin, renal tumours and multiple lung cysts. Genetic studies have disclosed that the clinical picture as well as r…