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...

Descripción completa

Detalles Bibliográficos
Autores principales: Fonseca, Ana Carolina S, Bonaldi, Adriano, Bertola, Débora R, Kim, Chong A, Otto, Paulo A, Vianna-Morgante, Angela M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658899/
https://www.ncbi.nlm.nih.gov/pubmed/23648064
http://dx.doi.org/10.1186/1471-2350-14-50

Ejemplares similares

Ejemplares similares