Associated Papers
PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.
Karam A et al.
Clinical Genetics, 2025
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Tiosano D et al.
Plos Genetics, 2019
Select a paper to view details