PIGL

Publications

Ng BG, et al. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet. 2012; 90(4):685-8. PMID: 22444671

Fujiwara I, et al. Mutations in PIGL in a patient with Mabry syndrome. Am J Med Genet A. 2015; 167A(4):777-85. PMID: 25706356

Pagnamenta AT, et al. Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. Eur J Hum Genet. 2017; 25(6):669-79. PMID: 28327575

Mogami Y, et al. Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency. Epileptic Disord. 2018; 20(1):42-50

Knight Johnson A, et al. Alu-mediated deletion of PIGL in a Patient with CHIME syndrome. Am J Med Genet A. 2017; 173(5): 1378-82. PMID: 28371479

Altassan R, et al. Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders. Mol Genet Metab Rep. 2018; 15: 46-9. PMID: 30023290

Ceroni JR, et al. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? Genet Mol Biol. 2018; 41(1): 85-91. PMID: 29473937

Onoufriadis A, et al. Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL. Clin Exp Dermatol. 2020; 45(3): 391-4. PMID: 31535386