Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly

IMPORTANCE: Patients with rare diseases and complex clinical presentations represent a challenge for clinical diagnostics. Genomic approaches are allowing the identification of novel variants in genes for very rare disorders, enabling a molecular diagnosis. Genomics is also revealing a phenotypic ex...

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Huvudupphovsmän: Gonzaga-Jauregui, Claudia, Lotze, Timothy, Jamal, Leila, Penney, Samantha, Campbell, Ian M., Pehlivan, Davut, Hunter, Jill V., Woodbury, Suzanne L., Raymond, Gerald, Adesina, Adekunle M., Jhangiani, Shalini N., Reid, Jeffrey G., Muzny, Donna M., Boerwinkle, Eric, Lupski, James R., Gibbs, Richard A., Wiszniewski, Wojciech
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2013
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4039291/
https://ncbi.nlm.nih.gov/pubmed/24126608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2013.4598
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