Associated Papers
PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.
Karam A et al.
Clinical Genetics, 2025
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.
Hauer NN et al.
European Journal of Human Genetics : Ejhg, 2019
30809043 (PubMed )
Supplement: 41431_2019_362_MOESM2_ESM.xlsx › Combined_Scoring
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Tiosano D et al.
Plos Genetics, 2019
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