Selenoprotein-related disease in a young girl caused by nonsense mutations in the SBP2 gene.
Azevedo MF, Barra GB, Naves LA, Ribeiro Velasco LF, Godoy Garcia Castro P, de Castro LC, Amato AA, Miniard A, Driscoll D, Schomburg L, de Assis Rocha Neves F.
Azevedo MF, et al. Among authors: amato aa.
J Clin Endocrinol Metab. 2010 Aug;95(8):4066-71. doi: 10.1210/jc.2009-2611. Epub 2010 May 25.
J Clin Endocrinol Metab. 2010.
PMID: 20501692