Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22

The potential causes for the incomplete penetrance of Pelizaeus-Merzbacher disease (PMD) in female carriers of PLP1 mutations are not well understood. We present a family with a boy having PMD in association with PLP1 duplication and three females who are apparent manifesting carriers. Custom high-r...

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Bibliographic Details
Main Authors: Carvalho, Claudia M. B., Bartnik, Magdalena, Pehlivan, Davut, Fang, Ping, Shen, Joseph, Lupski, James R.
Format: Artigo
Language:Inglês
Published: 2011
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3470482/
https://ncbi.nlm.nih.gov/pubmed/21623770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2011.01716.x
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