Clinical expression of Menkes disease in females with normal karyotype

BACKGROUND: Menkes 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 c...

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Autors principals: Møller, Lisbeth Birk, 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: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3298521/
https://ncbi.nlm.nih.gov/pubmed/22264391
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-6
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