Multifocal periapical cemental dysplasia in periodontal Ehlers–Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS]

Periodontal Ehlers‐Danlos syndrome (pEDS) is a rare disorder caused by heterozygous mutations in complement 1 subunit genes C1R and C1S. To date, 148 cases have been described in the literature.We describe a case of a suspected de novo‐mutation of pEDS with generalized Periapical cemental dysplasia...

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Autores principales: Nilius, Manfred, Nilius, Minou Helene, Müller, Charlotte, Lauer, Guenter, Berit, Koch, Marcus, Kohlhaas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9634265/
https://www.ncbi.nlm.nih.gov/pubmed/36348983
http://dx.doi.org/10.1002/ccr3.6490
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author Nilius, Manfred
Nilius, Minou Helene
Müller, Charlotte
Lauer, Guenter
Berit, Koch
Marcus, Kohlhaas
author_facet Nilius, Manfred
Nilius, Minou Helene
Müller, Charlotte
Lauer, Guenter
Berit, Koch
Marcus, Kohlhaas
author_sort Nilius, Manfred
collection PubMed
description Periodontal Ehlers‐Danlos syndrome (pEDS) is a rare disorder caused by heterozygous mutations in complement 1 subunit genes C1R and C1S. To date, 148 cases have been described in the literature.We describe a case of a suspected de novo‐mutation of pEDS with generalized Periapical cemental dysplasia (PCD) and cerebral leukoencephalopathy.
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spelling pubmed-96342652022-11-07 Multifocal periapical cemental dysplasia in periodontal Ehlers–Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS] Nilius, Manfred Nilius, Minou Helene Müller, Charlotte Lauer, Guenter Berit, Koch Marcus, Kohlhaas Clin Case Rep Case Report Periodontal Ehlers‐Danlos syndrome (pEDS) is a rare disorder caused by heterozygous mutations in complement 1 subunit genes C1R and C1S. To date, 148 cases have been described in the literature.We describe a case of a suspected de novo‐mutation of pEDS with generalized Periapical cemental dysplasia (PCD) and cerebral leukoencephalopathy. John Wiley and Sons Inc. 2022-11-04 /pmc/articles/PMC9634265/ /pubmed/36348983 http://dx.doi.org/10.1002/ccr3.6490 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Nilius, Manfred
Nilius, Minou Helene
Müller, Charlotte
Lauer, Guenter
Berit, Koch
Marcus, Kohlhaas
Multifocal periapical cemental dysplasia in periodontal Ehlers–Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS]
title Multifocal periapical cemental dysplasia in periodontal Ehlers–Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS]
title_full Multifocal periapical cemental dysplasia in periodontal Ehlers–Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS]
title_fullStr Multifocal periapical cemental dysplasia in periodontal Ehlers–Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS]
title_full_unstemmed Multifocal periapical cemental dysplasia in periodontal Ehlers–Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS]
title_short Multifocal periapical cemental dysplasia in periodontal Ehlers–Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS]
title_sort multifocal periapical cemental dysplasia in periodontal ehlers–danlos syndrome combined with leukoencephalopathy in the mutation of c.890g > a, g297d [peds]
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9634265/
https://www.ncbi.nlm.nih.gov/pubmed/36348983
http://dx.doi.org/10.1002/ccr3.6490
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