Clinical expression of Menkes disease in females with normal karyotype

Clinical expression of Menkes disease in females with normal karyotype

<p>Abstract</p> <p>Background</p> <p>Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the <it>ATP7A </it>gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due...

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Main Authors: Møller Lisbeth, Lenartowicz Malgorzata, Zabot Marie-Therese, Josiane Arnaud, Burglen Lydie, Bennett Chris, Riconda Daniel, Fisher Richard, Janssens Sandra, Mohammed Shehla, Ausems Margreet, Tümer Zeynep, Horn Nina, Jensen Thomas G
Format: Article
Language:English
Published: BMC 2012-01-01
Series:Orphanet Journal of Rare Diseases
Online Access:http://www.ojrd.com/content/7/1/6

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http://www.ojrd.com/content/7/1/6

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