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Differential PERP Regulation by TP63 Mutants Provides Insight into AEC Pathogenesis

Ankyloblepharon Ectodermal Dysplasia and Cleft Lip/Palate (AEC) or Hay-Wells Syndrome is an autosomal dominant disorder characterized by a variety of phenotypes in ectodermal derivatives, including severe skin erosions, ankyloblepharon, coarse and wiry hair, scalp dermatitis, and dystrophic nails. A...

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Détails bibliographiques
Auteurs principaux: Beaudry, Veronica G., Pathak, Navneeta, Koster, Maranke I., Attardi, Laura D.
Format: Artigo
Langue:Inglês
Publié: 2009
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3982294/
https://ncbi.nlm.nih.gov/pubmed/19353588
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32760
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