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Journal of Neurology
Published in: Journal of Neurology 5/2017

01-05-2017 | Letter to the Editors

Novel WDR45 mutation causing beta-propeller protein associated neurodegeneration (BPAN) in two monozygotic twins

Authors: Rui Araújo, Ana Garabal, Mariana Baptista, Sílvia Carvalho, Crisbety Pinho, Joaquim de Sá, Mónica Vasconcelos

Published in: Journal of Neurology | Issue 5/2017

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Excerpt

Dear Sirs, …
Appendix
Available only for authorised users
Literature
1.
Gregory A, Hayflick S (2013) Neurodegeneration with brain iron accumulation disorders overview (Internet). In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K (eds) Gene reviews. University of Washington, Seattle, pp 1993–2013
2.
Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia KP, Gregory A, Hayflick SJ (2012) Neuroimaging features of neurodegeneration with brain iron accumulation. Am J Neuroradiol 33(3):407–414CrossRefPubMed
3.
Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Dandu VH (2013) Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 136(6):1708–1717CrossRefPubMedPubMedCentral
4.
Hoffjan S, Ibisler A, Tschentscher A, Dekomien G, Bidinost C, Rosa AL (2016) WDR45 mutations in Rett (-like) syndrome and developmental delay: case report and an appraisal of the literature. Mol Cell Probes 30(1):44–49CrossRefPubMed
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Dufke A, Grasshoff U, Dufke C, Kalscheuer V, Schroeder C, Beck-Wödl S et al (2014) NGS based whole X-exome analysis re-veals a familial WDR45 missense mutation in 3 males with intellectual disability and brain iron accumulation (ESHG Abstract P08.53s). Eur J Hum Genet 22(suppl):161
6.
Harik S, Dandu V, Angtuaco E, Hayflick S (2013) Phenotypic differences in identical twins with mutated WDR45, a newly discovered X-chromosome gene mutation which causes neurodegeneration with brain iron accumulation (NBIA)(P03. 052). Neurology 80(7 Supplement):03–052
Metadata
Title
Novel WDR45 mutation causing beta-propeller protein associated neurodegeneration (BPAN) in two monozygotic twins
Authors
Rui Araújo
Ana Garabal
Mariana Baptista
Sílvia Carvalho
Crisbety Pinho
Joaquim de Sá
Mónica Vasconcelos
Publication date
01-05-2017
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 5/2017
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-017-8475-2

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