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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Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: 2013
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Article
Online pristup: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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