The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

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 eff...

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Autors principals: Fonseca, Ana Carolina S, Bonaldi, Adriano, Bertola, Débora R, Kim, Chong A, Otto, Paulo A, Vianna-Morgante, Angela M
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2013
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3658899/
https://ncbi.nlm.nih.gov/pubmed/23648064
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-50
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