Associated Papers
PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.
Karam A et al.
Clinical Genetics, 2025
Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype.
Galarreta CI et al.
American Journal of Medical Genetics. Part A, 2022
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