Litcius/Paper detail

A20 Haploinsufficiency: A Systematic Review of 177 Cases

Inès Elhani, Quentin Riller, Guilaine Boursier, Véronique Hentgen, Frédéric Rieux‐Laucat, Sophie Georgin‐Lavialle

2023Journal of Investigative Dermatology44 citationsDOIOpen Access PDF

Topics & Concepts

MedicineHaploinsufficiencyPyrin domainAutoimmunityInternal medicineThyroiditisPathogenesisPhenotypeDiseaseSystemic lupus erythematosusGastroenterologyImmunologyInflammationInflammasomeGeneticsGeneBiologyNF-κB Signaling Pathwaysinterferon and immune responsesCell Adhesion Molecules Research