Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
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Author / Creator
Appelhof, Bart , Wagner, Matias , Hoefele, Julia , Heinze, Anja , Roser, Timo , Koch-Hogrebe, Margarete , Roosendaal, Stefan D , Dehghani, Mohammadreza , Mehrjardi, Mohammad Yahya Vahidi , Torti, Erin , Houlden, Henry , Maroofian, Reza , Rajabi, Farrah , Sticht, Heinrich , Baas, Frank , Wieczorek, Dagmar and Jamra, Rami Abou
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Pontocerebellar hypoplasia (PCH) describes a group of rare heterogeneous neurodegenerative diseases with prenatal onset. Here we describe eight children with PCH from four unrelated families harboring the homozygous MINPP1 (NM_004897.4) variants; c.75_94del, p.(Leu27Argfs*39), c.851 C > A, p.(Ala284Asp), c.1210 C > T, p.(Arg404*), and c.992 T > G,...
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Full title
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
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Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7940488
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7940488
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-020-00749-x
