Estimating the age of rare disease mutations: the example of Triple-A syndrome

Míreanna Comhchosúla

• Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome
  le: Pinson, L, et al.
  Foilsithe: (2004)
• Refining the phenotype of common mutations in Rett syndrome
  le: Colvin, L, et al.
  Foilsithe: (2004)
• ANTISYNTHETASE SYNDROME: COURSE OF A RARE DISEASE ON EXAMPLE OF CLINICAL CASE
  le: Boateng H. K., et al.
  Foilsithe: (2018-07-01)
• Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome
  le: Spena, Silvia, et al.
  Foilsithe: (2015)
• Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome?
  le: Amiel, J, et al.
  Foilsithe: (2002)