Article
Penetrance and clinical consequences of a gross SDHB deletion in a large family.
Clinical genetics - 1 Apr 2009
Solis D C, Burnichon N, Timmers H J L M, Raygada M J, Kozupa A, Merino M J, Makey D, Adams K T, Venisse A, Gimenez-Roqueplo A-P, Pacak K
Abstract excerpt
Mutations in the gene encoding subunit B of the mitochondrial enzyme succinate dehydrogenase (SDHB) are inherited in an autosomal dominant manner and are associated with hereditary paraganglioma (PGL) and pheochromocytoma. The phenotype of patients with SDHB point mutations has been previously described. However, the phenotype and penetrance of gross SDHB deletions have not been well characterized as they are...
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