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- W2520922511 abstract "In the August 2016 issue of the journal, Niida et al. described a girl with infantile neuronal ceroid-lipofuscinosis (NCL) caused by a novel mutation in the PPT1 (palmitoyl-protein thioesterase 1) gene and paternal uniparental disomy (UPD) of chromosome 1 [ [1] Niida Y. Yokoi A. Kuroda M. Mitani Y. Nakagawa H. Ozaki M. A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1. Brain Dev. 2016; 38: 674-677 Abstract Full Text Full Text PDF PubMed Scopus (13) Google Scholar ]. Indeed, this was the first patient reported in the medical literature with paternal UPD of chromosome 1 and NCL1 (also known as Santavuori-Haltia disease; OMIM#256730), usually resulting from bi-allelic mutations in the PPT1 gene. In order to corroborate and expand these findings, we report on a family ascertained during regular genetic counseling seeking for recurrence risk of NCL1 diagnosed in their 9-year-old boy." @default.
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- W2520922511 date "2017-02-01" @default.
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- W2520922511 title "Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1" @default.
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- W2520922511 doi "https://doi.org/10.1016/j.braindev.2016.08.010" @default.
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