Neurodevelopmental Disorder and Late‐Onset Degenerative Parkinsonism in a Patient with a WDR45 Defect
Author:
Affiliation:
1. Department of Human Neuroscience—Unit of Child Neurology and Psychiatry Sapienza University of Rome Rome Italy
2. Medical Genetics and Neurogenetics Unit IRCCS Foundation Neurological Institute “Carlo Besta” Milan Italy
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13365
Reference9 articles.
1. Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
2. WDR45, one gene associated with multiple neurodevelopmental disorders
3. Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
4. Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration
5. Angelman syndrome: review of clinical and molecular aspects
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