Associated Papers
CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.
Arany ES et al.
American Journal of Medical Genetics. Part A, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Hardcastle A et al.
American Journal of Medical Genetics. Part A, 2022
Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report.
Rolland M et al.
Pediatric Dermatology, 2022
Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL.
Onoufriadis A et al.
Clinical and Experimental Dermatology, 2020
Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.
Baratang NV et al.
Molecular Genetics & Genomic Medicine, 2019
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
Knight Johnson A et al.
American Journal of Medical Genetics. Part A, 2017
Mutations in PIGL in a patient with Mabry syndrome.
Fujiwara I et al.
American Journal of Medical Genetics. Part A, 2015
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y et al.
Plos Genetics, 2014
Screening for stress-resistance mutations in the mouse.
Chick WS et al.
Frontiers in Genetics, 2014
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L et al.
American Journal of Human Genetics, 2013
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
Ng BG et al.
American Journal of Human Genetics, 2012
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Ceroni JR et al.
Genetics and Molecular Biology, 0
Severe congenital ichthyosiform dermatosis in CHIME syndrome successfully treated with ixekizumab.
Flowers LE et al.
Pediatric Dermatology, 0