Nelson Textbook of Pediatrics 22nd Edition | Pelizaeus-Merzbacher (PLP1, nystagmus, hypomyelination), Alexander disease (GFAP, macrocephaly, Rosenthal fibers), Canavan disease (ASPA, spongy degeneration, macrocephaly), Rett syndrome (MECP2, regression, hand-wringing, trofinetide), NBIA (PKAN, eye-of-the-tiger), Menkes disease (ATP7A, copper deficiency, kinky hair).
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