Associated Papers
CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.
Singla A et al.
Bmc Medical Genomics, 2025
Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.
Rodgers J et al.
American Journal of Medical Genetics. Part A, 2022
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