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Disease: Abruzzo Erickson syndrome

  • A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis
  • A suspected case of Abruzzo-Erickson syndrome
  • Guilty as CHARGED: p53's expanding role in disease
  • Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association
  • Unilateral ectopic parotid gland in CHARGE syndrome
  • X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations
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About CheckOrphan

CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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