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Modeling AEC—New Approaches to Study Rare Genetic Disorders

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare monogenetic disorder that is characterized by severe abnormalities in ectoderm-derived tissues, such as skin and its appendages. A major cause of morbidity among affected infants is severe and chronic skin erosions. Current...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Koch, Peter J., Dinella, Jason, Fete, Mary, Siegfried, Elaine C., Koster, Maranke I.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4526214/
https://ncbi.nlm.nih.gov/pubmed/24665072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36455
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