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Year | Number of Results |
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2003 | 1 |
2013 | 1 |
2014 | 1 |
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2019 | 2 |
2020 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 284098
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PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.
Am J Med Genet A. 2020 Jun;182(6):1477-1482. doi: 10.1002/ajmg.a.61555. Epub 2020 Mar 21.
Am J Med Genet A. 2020.
PMID: 32198969
Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report.
Fu L, Liu Y, Chen Y, Yuan Y, Wei W.
Fu L, et al.
BMC Pediatr. 2019 Feb 27;19(1):68. doi: 10.1186/s12887-019-1440-8.
BMC Pediatr. 2019.
PMID: 30813920
Free PMC article.
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Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.
Meier N, Bruder E, Lapaire O, Hoesli I, Kang A, Hench J, Hoeller S, De Geyter J, Miny P, Heinimann K, Chaoui R, Tercanli S, Filges I.
Meier N, et al.
Eur J Hum Genet. 2019 May;27(5):730-737. doi: 10.1038/s41431-018-0324-y. Epub 2019 Jan 24.
Eur J Hum Genet. 2019.
PMID: 30679815
Free PMC article.
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A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.
Hogrebe M, Murakami Y, Wild M, Ahlmann M, Biskup S, Hörtnagel K, Grüneberg M, Reunert J, Linden T, Kinoshita T, Marquardt T.
Hogrebe M, et al.
Am J Med Genet A. 2016 Dec;170(12):3319-3322. doi: 10.1002/ajmg.a.37950. Epub 2016 Sep 14.
Am J Med Genet A. 2016.
PMID: 27626616
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Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.
Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y.
Chiyonobu T, et al.
J Med Genet. 2014 Mar;51(3):203-7. doi: 10.1136/jmedgenet-2013-102156. Epub 2013 Dec 23.
J Med Genet. 2014.
PMID: 24367057
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PIG-W is critical for inositol acylation but not for flipping of glycosylphosphatidylinositol-anchor.
Murakami Y, Siripanyapinyo U, Hong Y, Kang JY, Ishihara S, Nakakuma H, Maeda Y, Kinoshita T.
Murakami Y, et al.
Mol Biol Cell. 2003 Oct;14(10):4285-95. doi: 10.1091/mbc.e03-03-0193. Epub 2003 Jun 13.
Mol Biol Cell. 2003.
PMID: 14517336
Free PMC article.
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