Associated Papers
CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.
Singla A et al.
Bmc Medical Genomics, 2025
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M et al.
European Journal of Human Genetics : Ejhg, 2015
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
Elliott AM et al.
Journal of Medical Genetics, 2013
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