Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly

Eitemau Tebyg

• The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior
  gan: Lenski, Claus , et al.
  Cyhoeddwyd: (2007)
• A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)
  gan: Ramser, J, et al.
  Cyhoeddwyd: (2004)
• Golabi‐Ito‐Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene
  gan: Lubs, H, et al.
  Cyhoeddwyd: (2006)
• Renpenning syndrome maps to Xp11.
  gan: Stevenson, R E, et al.
  Cyhoeddwyd: (1998)
• THE ETIOLOGIC PATTERNS IN MICROCEPHALY WITH MENTAL RETARDATION
  gan: Prasad, K.M.R., et al.
  Cyhoeddwyd: (1995)