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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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[Sporadic Birt-Hogg-Dube syndrome]
G Vandenbossche1, C Piérard-Franchimont, P Quatresooz
1Service de Dermatologie, CHR Hutois.
Revue Medicale De Liege
|September 26, 2009
Abstract:
Birt-Hogg-Dube is a rare syndrome which is sporadic or hereditary with a dominant autosomal transmission. Various organs, in particular the skin, can be affected. In the presently reported case, skin was covered by hundreds of small molluscoid papules corresponding to trichodiscomas, fibrofolliculomas and skin tags.
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