Table 1.
Pathogenic and likely pathogenic variants identified in AS-like patients.
Fig 1.
Schematic representation of the phenotypic overlap between the patients with pathogenic/likely pathogenic variants genes and the AS phenotype.
In the middle of the figure the core AS features present in all the patients while in the tips the clinical features present in the patients that are associated with the gene identified.
Table 2.
Characteristics of AS-like patients at clinical re-evaluation.