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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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  Data: Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.
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  Data: <searchLink fieldCode="AU" term="%22Sattler+EC%22">Sattler EC</searchLink>; Department of Dermatology and Allergology, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany. Elke.Sattler@med.uni-muenchen.de.<br /><searchLink fieldCode="AU" term="%22Steinlein+OK%22">Steinlein OK</searchLink>; Institute of Human Genetics, University Hospital, Ludwig Maximilian University of Munich, Goethestr. 29, D-80336, Munich, Germany.
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  Data: <searchLink fieldCode="JN" term="%22100968552%22">BMC medical genetics</searchLink> [BMC Med Genet] 2018 Mar 16; Vol. 19 (1), pp. 45. <i>Date of Electronic Publication: </i>2018 Mar 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100968552 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2350 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712350%22">14712350 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genet <i>Subsets: </i>MEDLINE
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      – TitleFull: Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.
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