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A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45 Cover

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45

Open Access
|Aug 2017

References

  1. 1
    HayflickSJKruerMCGregoryAHaackTBKurianMAHouldenHHet alBeta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulationBrain2013Pt 617081717doi: 10.1093/brain/awt09523687123
  2. 2
    SaitsuHNishimuraTMuramatsuKKoderaHKumadaSSugaiKet alDe novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthoodNat Genet2013454454499e1doi: 10.1038/ng.256223435086
  3. 3
    GregoryAHayflickSNeurodegeneration with brain iron accumulation disorders overviewPagonRAAdamMPArdingerHHWallaceSEAmemiyaABeanLJHet alGeneReviews(R)Seattle, WAUniversity of Washington1993
  4. 4
    TschentscherADekomienGRossSCremerKKukukGMEpplenJTet alAnalysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulationJ Neurol Sci2015349105109doi: 10.1016/j.jns.2014.12.03625592411
  5. 5
    HaackTBHogarthPKruerMCGregoryAWielandTSchwarzmayrTet alExome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIAAm J Hum Genet20129111441149doi: 10.1016/j.ajhg.2012.10.01923176820
  6. 6
    AllenRCZoghbiHYMoseleyABRosenblattHMBelmontJWMethylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivationAm J Hum Genet199251122912391281384
DOI: https://doi.org/10.5334/tohm.360 | Journal eISSN: 2160-8288
Language: English
Submitted on: Mar 31, 2017
Accepted on: Jul 6, 2017
Published on: Aug 8, 2017
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2017 Andreas Hermann, Hagen H. Kitzler, Tobias Pollack, Saskia Biskup, Stefanie Krüger, Claudia Funke, Caterina Terrile, Tobias B. Haack, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.