Article
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.
BMC medical genetics - 7 May 2013
Fonseca Ana Carolina S, Bonaldi Adriano, Bertola Débora R, Kim Chong A, Otto Paulo A, Vianna-Morgante Angela M
Abstract excerpt
BACKGROUND: The association of balanced rearrangements with breakpoints near SOX9 [SRY (sex determining region Y)-box 9] with skeletal abnormalities has been ascribed to the presumptive altering of SOX9 expression by the direct disruption of regulatory elements, their separation from SOX9 or the effect of juxtaposed sequences. CASE PRESENTATION: We report on two sporadic apparently balanced translocations,...
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