dc.contributor.author | IRVINE, ALAN | en |
dc.date.accessioned | 2016-02-25T12:51:12Z | |
dc.date.available | 2016-02-25T12:51:12Z | |
dc.date.issued | 2009 | en |
dc.date.submitted | 2009 | en |
dc.identifier.citation | Irvine, AD., Towards a unified classification of the ectodermal dysplasias: Opportunities outweigh challenges., American Journal Of Medical Genetics Part A, 149A, 9, 2009, 1970-1972 | en |
dc.identifier.other | Y | en |
dc.identifier.uri | http://hdl.handle.net/2262/75981 | |
dc.description.abstract | The ectodermal dysplasias include a complex and highly diverse group of heritable disorders that share in common developmental abnormalities of ectodermal derivatives. The broader definition of ectodermal dysplasias (as heritable disorders involving at least two of the ectodermal derivatives nails, teeth, hair, and eccrine sweat glands) encompasses 170-200 conditions. Some conditions included by this definition are relatively common; others are rare and, in some cases, family-specific. Classification of the ectodermal dysplasias has largely been approached by categorizing patterns of clinical findings (phenotypic grouping). In the last 2 decades great progress has been made in understanding the molecular pathogenesis and inter-relatedness of some of these conditions and a new consensus approach to classification that incorporates this new information is needed. A comprehensive and definitive classification of these disorders would be highly valuable for the many stakeholders in ED. As disease-specific molecular treatments are developed, accurate classification will assume greater importance in designing registries to enable rapid identification of those with rare disorders who may wish to participate in clinical trials. Ideally a working classification of such a disparate collection of conditions would have a design and architecture that would facilitate easy accessibility by each of the key stakeholder groups and would encourage enhanced interaction between these parties. Attaining this objective is a major challenge but is achievable. This article reviews the historical-clinical perspective and the impact of recent developments in molecular biology in the field. Reflections are offered as to the future direction of classification systems in these disorders. | en |
dc.format.extent | 1970-1972 | en |
dc.relation.ispartofseries | American Journal Of Medical Genetics Part A | en |
dc.relation.ispartofseries | 149A | en |
dc.relation.ispartofseries | 9 | en |
dc.rights | Y | en |
dc.subject | ectodermal dysplasias | en |
dc.title | Towards a unified classification of the ectodermal dysplasias: Opportunities outweigh challenges. | en |
dc.type | Journal Article | en |
dc.type.supercollection | scholarly_publications | en |
dc.type.supercollection | refereed_publications | en |
dc.identifier.peoplefinderurl | http://people.tcd.ie/irvinea | en |
dc.identifier.rssinternalid | 60846 | en |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.a.32852 | en |
dc.rights.ecaccessrights | openAccess | |
dc.subject.TCDTheme | Immunology, Inflammation & Infection | en |
dc.identifier.orcid_id | 0000-0002-9048-2044 | en |