Clinical expression of Menkes disease in females with normal karyotype
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Published in Orphanet Journal of Rare Diseases
BackgroundMenkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X inactivation, and they are rarely affected. In the largest cohort of MD patients reported so far which consists ...
