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.
               
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