New case of bilateral pheochromocytomas involving the homozygous TMEM127 mutation
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DOI: 10.1111/cge.13361
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… read more here.
Keywords: new case; pheochromocytomas involving; bilateral pheochromocytomas; case ... See more keywords