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):407–414
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):1708–1717
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):44–49
5. 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