Menkes Disease
| | | | CHAD’S Kinky WIFE, CHANdra | | | | |
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XLR, ATP7A mutation, encodes ATP-dependent copper transporter- ↓ Serum copper levels, pili torti (most common), trichorrhexis nodosa, short brittle “steel wool” hair, sparse eyelashes/eyebrows, cupid’s bow upper lip, progressive CNS deterioration, seizures, tortuous arteries
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