Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation

Neuropediatrics. 2019 Aug;50(4):268-270. doi: 10.1055/s-0039-1688954. Epub 2019 May 28.

¹ Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Istituto Giannina Gaslini, Genoa, Italy.
² Department of Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
³ Neuroradiology Unit, Neuroscience Department, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
⁴ Laboratory of Molecular Genetics and Biobank, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
⁵ Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

No abstract available

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