Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations

Ectodermal dysplasias (ED) are uncommon genetic disorders resulting in abnormalities in ectodermally derived structures. Many ED-associated genes have been described, of which ectodysplasin-A (EDA) is one of the more common. The NF-κB essential modulator (NEMO encoded by the IKBKG gene) is unique in...

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Autors principals: Keller, Michael D., Petersen, Maureen, Ong, Peck, Church, Joseph, Risma, Kimberly, Burham, Jon, Jain, Ashish, Stiehm, E. Richard, Hanson, Eric P., Uzel, Gulbu, Deardorff, Matthew A., Orange, Jordan S.
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Research Foundation 2011
Matèries:
Immunology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3341983/
https://ncbi.nlm.nih.gov/pubmed/22566850
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2011.00061
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