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Molecular Pathway-B...
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Peschel, NicolaiCenter for Ectodermal Dysplasias, University Hospital Erlangen, Erlangen, Germany; Department of Pediatrics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
(författare)
Molecular Pathway-Based Classification of Ectodermal Dysplasias : First Five-Yearly Update
- Artikel/kapitelEngelska2022
Förlag, utgivningsår, omfång ...
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2022-12-10
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MDPI,2022
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printrdacarrier
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:hj-59281
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https://urn.kb.se/resolve?urn=urn:nbn:se:hj:diva-59281URI
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https://doi.org/10.3390/genes13122327DOI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
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To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the latest classification approach that was adopted in 2017 by an international panel of experts. For this purpose, we searched the databases PubMed and OMIM for the term “ectodermal dysplasia”, referring mainly to changes in the last 5 years. We also tried to obtain information about those diseases on which the last scientific report appeared more than 15 years ago by contacting the authors of the most recent publication. A group of experts, composed of researchers who attended the 8th International Conference on Ectodermal Dysplasias and additional members of the previous classification panel, reviewed the proposed amendments and agreed on a final table listing all 49 currently known ectodermal dysplasias for which the molecular genetic basis has been clarified, including 15 new entities. A newly reported ectodermal dysplasia, linked to the gene LRP6, is described here in more detail. These ectodermal dysplasias, in the strict sense, should be distinguished from syndromes with features of ectodermal dysplasia that are related to genes extraneous to the currently known pathways involved in ectodermal development. The latter group consists of 34 syndromes which had been placed on the previous list of ectodermal dysplasias, but most if not all of them could actually be classified elsewhere. This update should streamline the classification of ectodermal dysplasias, provide guidance to the correct diagnosis of rare disease entities, and facilitate the identification of individuals who could benefit from novel treatment options.
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Biuppslag (personer, institutioner, konferenser, titlar ...)
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Wright, John T.Division of Pediatric and Public Health, University of North Carolina Adams School of Dentistry, Chapel Hill, NC, USA
(författare)
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Koster, Maranke I.Department of Biochemistry and Molecular Biology, Brody School of Medicine at East Carolina University, Greenville, NC, USA
(författare)
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Clarke, Angus J.Division of Cancer & Genetics, Institute of Medical Genetics, Cardiff University School of Medicine, Cardiff, UK
(författare)
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Tadini, GianlucaCenter for Inherited Cutaneous Diseases, University of Milan, Milan, Italy
(författare)
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Fete, MaryNational Foundation for Ectodermal Dysplasias, Fairview Heights, IL, USA
(författare)
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Hadj-Rabia, SmailDepartment of Dermatology, Reference Centre for Genodermatoses and Rare Skin Disease (MAGEC), Hopital Universitaire Necker-Enfants Malades, Assistance Publique-Hospitals of Paris, University of Paris-Cité, Paris, France
(författare)
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Sybert, Virginia P.Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA, USA
(författare)
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Norderyd, Johanna,1958-Jönköping University,HHJ. CHILD,National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden(Swepub:hj)gtoino
(författare)
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Maier-Wohlfart, SigrunCenter for Ectodermal Dysplasias, University Hospital Erlangen, Erlangen, Germany; Department of Pediatrics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
(författare)
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Fete, Timothy J.Department of Child Health, University of Missouri, Columbia, MO, USA
(författare)
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Pagnan, NinaDepartment of Genetics, Federal University of Parana, Curitiba, PR, Brazil
(författare)
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Visinoni, Atila F.School of Health Sciences, Positivo University, Curitiba, PR, Brazil
(författare)
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Schneider, HolmCenter for Ectodermal Dysplasias, University Hospital Erlangen, Erlangen, Germany; Department of Pediatrics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
(författare)
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Center for Ectodermal Dysplasias, University Hospital Erlangen, Erlangen, Germany; Department of Pediatrics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, GermanyDivision of Pediatric and Public Health, University of North Carolina Adams School of Dentistry, Chapel Hill, NC, USA
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Genes: MDPI13:122073-4425
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Peschel, Nicolai
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Wright, John T.
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Koster, Maranke ...
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Clarke, Angus J.
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Tadini, Gianluca
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Fete, Mary
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Hadj-Rabia, Smai ...
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Sybert, Virginia ...
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Norderyd, Johann ...
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Maier-Wohlfart, ...
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Fete, Timothy J.
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Pagnan, Nina
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Visinoni, Atila ...
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Schneider, Holm
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Jönköping University