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Atypical Pantothenate Kinase-Associated Neurodegeneration with Variable Phenotypes in an Egyptian Family

2021-03-19

Abstract excerpt

<title>Abstract</title> <p>Pantothenate kinase-associated neurodegeneration (PKAN) is a rare hereditary neurodegenerative disease characterized by an accumulation of iron within the brain. In the present report, we describe a family with 4 affected siblings presenting with variable clinical manifestations, e.g., parkinsonian features, dystonia and slow disease progression over 5 years. Exome sequencing revealed a...

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Literature Corpus work
5ea22c22-3140-5aa1-829d-b22e59a4dbc2
DOI
10.21203/rs.3.rs-324151/v1
Open publication

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