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A three-month-old male presented with developmental delay, rib fractures, and seizures. He had normal-looking hair.[1] A magnetic resonance imaging (MRI) scan of the brain was normal. Pathogenic ATP7A mutation was identified, which confirmed Menkes Disease. Only at 9 months of age did he develop patches of kinky hair.
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Oppenheim et al. (2024) studied this question.
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