Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

Samankaltaisia teoksia

• The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea
  Tekijä: Yun, Ki Wook, et al.
  Julkaistu: (2011)
• De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).
  Tekijä: Lamb, J, et al.
  Julkaistu: (1993)
• Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.
  Tekijä: Lossi, A M, et al.
  Julkaistu: (1999)
• Alpha thalassaemia mental retardation (ATR-X): an atypical family.
  Tekijä: Logie, L J, et al.
  Julkaistu: (1994)
• Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.
  Tekijä: Wilkie, A O, et al.
  Julkaistu: (1990)