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MENKES KINKY HAIR SYNDROME


MENKES

   MEN (XLR), MNK gene which encodes for a CU++-transporting APTase
   Early death
   pNeumonia (and other infections), trichorehexis Nodosa (may be seen)
   Kinky hair (pili torti) -+ pili torti is more common than TN
   Extra skin on palms (degen'd vessel elastic tissue)
   Seizures, Skeletal changes

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