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Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II)
|Published in||American Journal of Medical Genetics. A. 2009, vol. 149A, no. 9, p. 2062-2067|
|Abstract||Hereditary conditions are traditionally classified based either on physical/physiological attributes or using the names of the individuals credited with identifying the condition. For the 170 plus conditions classified as ectodermal dysplasias (EDs), both of these nosological systems are used, at times interchangeably. Over the past decade our knowledge of the human genome and the molecular basis of the EDs have greatly expanded providing the impetus to consider alternative classification systems. The incorporation of the molecular basis of hereditary conditions adds important information allowing effective transfer of objective genetic information that can be lacking from traditional classification systems. Molecular information can be added to the nosological system for the EDs through a hierarchical- and domain-based approach that encompasses the condition's name, mode of inheritance, molecular pathway affected, and specific molecular change. As new molecular information becomes available it can be effectively incorporated using this classification approach. Integrating molecular information into the ED classification system, while retaining well-recognized traditional syndrome names, facilitates communication at and between different groups of people including patients, families, health care providers, and researchers.|
|Keywords||Ectodermal Dysplasia/*classification/*genetics/physiopathology — Ectodysplasins/genetics — *Genetic Predisposition to Disease — Genotype — Humans — Keratins/genetics — *Molecular Biology/methods — Mutation — *Proteins/genetics/metabolism — Trans-Activators/genetics — Transcription Factors — Tumor Suppressor Proteins/genetics|
|Research group||Voies d'activation de l'immunité innée au niveau de la peau (156)|
|WRIGHT, J Timothy et al. Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II). In: American Journal of Medical Genetics. A, 2009, vol. 149A, n° 9, p. 2062-2067. doi: 10.1002/ajmg.a.32869 https://archive-ouverte.unige.ch/unige:20181|