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New case of bilateral pheochromocytomas involving the homozygous TMEM127 mutation

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Our patient represents the third case of pheochromocytoma and mental retardation involving a homozygous region in 2p11.2 with a TMEM127 variant. This rare homozygous mutation does not seem to aggravate… Click to show full abstract

Our patient represents the third case of pheochromocytoma and mental retardation involving a homozygous region in 2p11.2 with a TMEM127 variant. This rare homozygous mutation does not seem to aggravate the clinical picture of the disease compared to heterozygous mutations.

Keywords: new case; pheochromocytomas involving; bilateral pheochromocytomas; case; involving homozygous; case bilateral

Journal Title: Clinical Genetics
Year Published: 2018

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