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Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010. Epub 2012 Mar 22.
Am J Hum Genet. 2012.
PMID: 22444671
Free PMC article.
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
Knight Johnson A, Schaefer GB, Lee J, Hu Y, Del Gaudio D.
Knight Johnson A, et al.
Am J Med Genet A. 2017 May;173(5):1378-1382. doi: 10.1002/ajmg.a.38181. Epub 2017 Mar 28.
Am J Med Genet A. 2017.
PMID: 28371479
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Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Ceroni JR, Yamamoto GL, Honjo RS, Kim CA, Passos-Bueno MR, Bertola DR.
Ceroni JR, et al.
Genet Mol Biol. 2018 Jan-Mar;41(1):85-91. doi: 10.1590/1678-4685-GMB-2017-0172. Epub 2018 Feb 19.
Genet Mol Biol. 2018.
PMID: 29473937
Free PMC article.
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Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL.
Onoufriadis A, Simpson JK, McDonald C, Nguyen TTM, Campeau PM, Simpson MA, Martinez AE, McGrath JA.
Onoufriadis A, et al.
Clin Exp Dermatol. 2020 Apr;45(3):391-394. doi: 10.1111/ced.14077. Epub 2019 Sep 18.
Clin Exp Dermatol. 2020.
PMID: 31535386
No abstract available.
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