De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).

Lignende værker

• X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
  af: Gibbons, R J, et al.
  Udgivet: (1992)
• The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea
  af: Yun, Ki Wook, et al.
  Udgivet: (2011)
• Alpha thalassaemia mental retardation (ATR-X): an atypical family.
  af: Logie, L J, et al.
  Udgivet: (1994)
• Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.
  af: Villard, L., et al.
  Udgivet: (1996)
• Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.
  af: Wilkie, A O, et al.
  Udgivet: (1990)