Concepedia

Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings

Mohamed M. Khalifa, Lena Naffaa

European Journal of Medical Genetics · 2015 · 27 citations · 27 references

DOI

Concepts

References

27

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

Bing Bing Zhou, Shawn K. Westaway, Barbara Levinson et al. · Nature Genetics · 2001 · 761 citations

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Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome

Susan J. Hayflick, Shawn K. Westaway, Barbara Levinson et al. · New England Journal of Medicine · 2003 · 718 citations · Full text

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Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Raphael Schiffmann, Marjo S. van der Knaap · Neurology · 2009 · 550 citations · Full text

, , +17

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

Andrew R.J. Curtis, Constanze Fey, Christopher M. Morris et al. · Nature Genetics · 2001 · 539 citations

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De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu et al. · Nature Genetics · 2013 · 474 citations

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