Menkes Disease with Discordant Phenotype in Female Monozygotic Twins

Menkes disease (MD) is a rare X-linked recessive disorder caused by mutations in the ATP7A gene. This neurodegenerative disorder typically affects males and is characterized by impaired copper distribution and the malfunction of several copper-dependent enzymes. We report clinically discordant femal...

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Bibliographic Details
Published in:Am J Med Genet A
Main Authors: Burgemeister, Anna Lena, Zirn, Birgit, Oeffner, Frank, Kaler, Stephen G., Lemm, Gunther, Rossier, Eva, Büttel, Hans-Martin
Format: Artigo
Language:Inglês
Published: 2015
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6475897/
https://ncbi.nlm.nih.gov/pubmed/26239182
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37276
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