Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"7q11.23"”.
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Rearrangements of 7q11.23: disorders of the epigenome
Rearrangements of a 1.5 Mb region on chromosome 7q11.23 produce two distinct multisystem developmental disorders. Deletion of this region causes Williams-Beuren syndrome (WS; MIM 194050) and the reciprocal duplication causes 7q11.23 duplication syndrome (Dup7; MIM 609757). Individuals with WS and …
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An in vivo study of GTF2IRD1 function and its contribution to the physical features of Williams Beuren Syndrome
… deletion involving up to 28 genes on chromosome 7q11.23. Amongst the spectrum of physical and neurological defects of WBS, it is common to find sensorineural hearing loss (SNHL) and a characteristic set of facial features. The gene GTF2IRD1, first discovered in our laboratory, and the adjacent, …