Výsledky vyhledávání

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygousfibulin-4gene mutation

Autor: Cornelia Kraus, Geppert Jp, Anita Rauch, Juliane Hoyer, Gerhard Hammersen

Publikováno v: Clinical Genetics. 76:276-281

Cutis laxa is characterised by redundant, inelastic skin with deep wrinkling and additional variable systemic involvement. Mutations in fibulin-4 (EFEMP2) and fibulin-5 (FBLN5) were described to be causative for autosomal recessive cutis laxa type 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bc77cd6376ae30409bb5fe58f543b46
https://doi.org/10.1111/j.1399-0004.2009.01204.x

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Micrographic controlled surgery of basal cell carcinomas: rapid lump examination in comparison with haematoxylin and eosin-stained paraffin sections.

Autor: Peters N; Department of Dermatology, University Hospital, Liebermeisterstraße 25, D-72076, Tuebingen, Germany., Schubert M; Department of Dermatology, University Hospital, Liebermeisterstraße 25, D-72076, Tuebingen, Germany.; Artemed Fachklinik Muenchen, D-80336, Muenchen, Germany., Geppert JP; Dr Geppert and colleagues, Institute for Pathology, Cytology and Dermatohistology, D-72072, Tuebingen, Germany., Moehrle M; Department of Dermatology, University Hospital, Liebermeisterstraße 25, D-72076, Tuebingen, Germany.; Praxisklinik Tuebingen - Haut und Venen, D-72072, Tuebingen, Germany.

Publikováno v: The British journal of dermatology [Br J Dermatol] 2019 Aug; Vol. 181 (2), pp. 399-400. Date of Electronic Publication: 2019 Apr 26.

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Akademický článek

Diagnostic accuracy of a new ex vivo confocal laser scanning microscope compared to H&E-stained paraffin slides for micrographic surgery of basal cell carcinoma.

Autor: Peters N; Department of Dermatology, University Hospital, Tuebingen, Germany., Schubert M; Department of Dermatology, University Hospital, Tuebingen, Germany.; Artemed Fachklinik Muenchen, Muenchen, Germany., Metzler G; Department of Dermatology, University Hospital, Tuebingen, Germany., Geppert JP; Pathologie Dr. Geppert, Tuebingen, Germany., Moehrle M; Department of Dermatology, University Hospital, Tuebingen, Germany.; Praxisklinik Tuebingen - Haut und Venen, Tuebingen, Germany.

Publikováno v: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2019 Feb; Vol. 33 (2), pp. 298-304. Date of Electronic Publication: 2018 Sep 27.

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Akademický článek

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.

Autor: Hoyer J; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, 91054 Erlangen, Germany. jhoyer@humgenet.uni-erlangen.de, Kraus C, Hammersen G, Geppert JP, Rauch A

Publikováno v: Clinical genetics [Clin Genet] 2009 Sep; Vol. 76 (3), pp. 276-81. Date of Electronic Publication: 2009 Aug 03.

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