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New genetic test leads to Birt-Hogg-Dubé syndrome: A case report


Korotcenko, L; Azzarello-Burri, Silvia; Baumer Wolz, Alessandra; Hillinger, S; Weder, W; Opitz, Isabelle; Lauk, O (2019). New genetic test leads to Birt-Hogg-Dubé syndrome: A case report. In: DACH-Jahrestagung Thoraxchirurgie, Salzburg, 29 September 2019 - 1 October 2019. Georg Thieme Verlag, S100.

Abstract

We present a patient with mutation in folliculin (FLCN) gene leading to Birt-Hogg-Dubé syndrome (BHD), which was underdiagnosed until next generation sequencing (NGS) and NGS-based CNV analysis was accessible.

Abstract

We present a patient with mutation in folliculin (FLCN) gene leading to Birt-Hogg-Dubé syndrome (BHD), which was underdiagnosed until next generation sequencing (NGS) and NGS-based CNV analysis was accessible.

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Additional indexing

Item Type:Conference or Workshop Item (Other), refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Uncontrolled Keywords:Medical Genetics,
Language:English
Event End Date:1 October 2019
Deposited On:26 Apr 2023 12:08
Last Modified:26 Apr 2023 12:08
Publisher:Georg Thieme Verlag
Series Name:Zentralblatt für Chirurgie
Number:144
ISSN:0044-409X
OA Status:Closed
Publisher DOI:https://doi.org/10.1055/s-0039-1694228