Publication | Closed Access

Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype

Autoimmune DiseaseGenetic DisorderGenetic-and Phenotypic HeterogeneityGeneticsInherited Metabolic DiseasePathologyKabuki SyndromeAutoimmunityMolecular GeneticsDisease Gene IdentificationSclerodermaMedicineInborn Error Of ImmunityKabuki-like PhenotypeVariant InterpretationClinical Genetics