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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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Journal Title: Clinical Genetics
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!