Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

Brain Dev. 2017 Feb;39(2):182-183. doi: 10.1016/j.braindev.2016.08.010. Epub 2016 Sep 14.

¹ Department of Neurosciences, Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
² Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
³ Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy.
⁴ Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IRCCS, Rome, Italy. Electronic address: [email protected].

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