The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. - Fonseca, Ana Carolina S.; Bonaldi, Adriano; Bertola, Débora R.; Kim, Chong A.; Otto, Paulo A.; Vianna-Morgante, Angela M. (BMC Medical Genetics, 2013)