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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Periventricular nodular heterotopia and Williams syndrome.

We report here on the first case of a child with bilateral periventricular nodular heterotopia (PNH) and Williams syndrome. Fluorescent in situ hybridization (FISH) analyses demonstrated a deletion of the elastin gene in the Williams syndrome critical region (WSCR). Further mapping by loss of heterozygosity analysis both by microsatellite marker and SNP profiling demonstrated a 1.5 Mb deletion beyond the telomeric end of the typical WSCR. No mutations were identified in the X-linked filamin-A gene (the most common cause of PNH). These findings suggest another dominant PNH disorder along chromosome 7q11.23.[1]

References

  1. Periventricular nodular heterotopia and Williams syndrome. Ferland, R.J., Gaitanis, J.N., Apse, K., Tantravahi, U., Walsh, C.A., Sheen, V.L. Am. J. Med. Genet. A (2006) [Pubmed]
 
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