WDR45 Mutation in Atypical Rett Syndrome with Brain Iron Accumulation

Mov Disord Clin Pract. 2015 Feb 24;2(1):81-83. doi: 10.1002/mdc3.12120. eCollection 2015 Mar.

Sarah J Crisp¹, Esther Meyer², Allison Gregory³, Hayley Archer⁴, Susan Hayflick^{3

5

6}, Manju A Kurian^{2

7}, Rajith de Silva¹

¹ Department of Neurology Essex Center for Neurological Sciences Queen's Hospital Romford Essex United Kingdom.
² Neurosciences Unit-Institute of Child Health University College London London United Kingdom.
³ Department of Molecular and Medical Genetics Oregon Health & Science University Portland Oregon USA.
⁴ Institute of Medical Genetics University Hospital of Wales Cardiff United Kingdom.
⁵ Department of Pediatrics Oregon Health & Science University Portland Oregon USA.
⁶ Department of Neurology Oregon Health & Science University Portland Oregon USA.
⁷ Department of Neurology Great Ormond Street Hospital London Essex United Kingdom.

No abstract available

Keywords: BPAN; Rett syndrome; WDR45; developmental delay; neurodegeneration with brain iron accumulation.

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