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

Míreanna Comhchosúla

• The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior
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  Foilsithe: (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)
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• Golabi‐Ito‐Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene
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  Foilsithe: (2006)
• Renpenning syndrome maps to Xp11.
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  Foilsithe: (1998)
• THE ETIOLOGIC PATTERNS IN MICROCEPHALY WITH MENTAL RETARDATION
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  Foilsithe: (1995)