Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.

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Title: Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.
Authors: Sattler EC; Department of Dermatology and Allergology, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany. Elke.Sattler@med.uni-muenchen.de., Steinlein OK; Institute of Human Genetics, University Hospital, Ludwig Maximilian University of Munich, Goethestr. 29, D-80336, Munich, Germany.
Source: BMC medical genetics [BMC Med Genet] 2018 Mar 16; Vol. 19 (1), pp. 45. Date of Electronic Publication: 2018 Mar 16.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1471-2350
DOI:10.1186/s12881-018-0558-0