Disease Associations

Hippocampal formation in Williams syndrome studied, abnormalities defined

Published in Proteomics Weekly, August 29th, 2005

A recently published study from the United States has defined the functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome (WS).

"WS, caused by microdeletion of some 21 genes on chromosome 7q11.23, is characterized by dysmorphic features, mental retardation or learning difficulties, elastin arteriopathy, and striking neurocognitive and social-behavioral abnormalities.

"Recent studies of murine knockouts of key genes in the microdeleted region, LIM kinase 1 (LIMK1) and cytoplasmatic linker protein 2 (CYLN2), demonstrated significant functional and metabolic abnormalities, but grossly normal structure, in...

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Source: Proteomics Weekly (2005-08-29)

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