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RT @doctorORbust: When you diagnose a genetic disease from history alone it's very validating, in this case hereditary neuropathy with liab…
RT @doctorORbust: When you diagnose a genetic disease from history alone it's very validating, in this case hereditary neuropathy with liab…
When you diagnose a genetic disease from history alone it's very validating, in this case hereditary neuropathy with liability to pressure palsies (HNPP) -- a PMP22 deletion. You may have heard of Charcot Marie Tooth, that's commonly a PMP22 duplication.