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

Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg; Institute of Human Genetics, Technische Universität München, Munich

DOI: https://doi.org/10.5334/tohm.360 | Journal eISSN: 2160-8288

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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

Keywords:

Static encephalopathy of childhood with neurodegeneration in adulthood,

SENDA,

BPAN,

beta-propeller protein-associated neurodegeneration,

NBIA,

WDR45

© 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.

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