Open access
Aug 2026
Founder SDHB Exon 1 Deletion in Brazilian Patients with Paraganglioma: Further Evidence for An Iberian Founder Effect
Pheochromocytomas and paragangliomas (PPGLs) are highly heritable neuroendocrine tumors frequently associated with germline pathogenic variants in SDHB. Although large SDHB deletions are rare worldwide, a recurrent 15,678 bp deletion encompassing the promoter region and exon 1 has been described in the Iberian Peninsul...
P. B. Araújo, J. Nascimento, M. Carvallo et al.
· Current Genetic Medicine Rep... · 0 citations