Article
Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.
Clinical genetics - 1 May 2018
Eijkelenkamp K, Olderode-Berends M J W, van der Luijt R B, Robledo M, van Dooren M, Feelders R A, de Vries J, Kerstens M N, Links T P, van der Horst-Schrivers A N A
Abstract excerpt
Pheochromocytoma (PCC) and paraganglioma (PGL) are rare neuroendocrine tumors that are hereditary in up to 50% of patients. The gene encoding transmembrane-protein-127 (TMEM127) is one of the PCC/PGL-susceptibility genes with an autosomal dominant inheritance pattern. Here, we report 2 patients with bilateral PCC who both harbored a homozygous TMEM127-mutation. In a 31-year-old mentally retarded patient, the...
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