• Additional case report of new neuroectodermal syndrome
• Alu-mediated deletion of PIGL in a Patient with CHIME syndrome
• Autosomal recessive transmission of neuroectodermal syndrome
• 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
• CHInese Medicine NeuroAiD Efficacy on Stroke Recovery - Extension Study (CHIMES-E): A Multicenter Study of Long-Term Efficacy
• Congenital diaphragmatic hernia and early lethality in PIGL-related disorder
• Congenital migratory ichthyosiform dermatosis with neurologic and ophthalmologic abnormalities
• Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome
• Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases
• Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities