Associated Papers
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.
Kim AH et al.
Life Science Alliance, 2024
A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities.
Yi S et al.
Heliyon, 2024
Identification of a Novel Variant in CC2D1A Gene Linked to Autosomal Recessive Intellectual Disability 3 in an Iranian Family and Investigating the Structure and Pleiotropic Effects of this Gene.
Rashvand Z et al.
Iranian Journal of Child Neurology, 2024
Novel alterations of CC2D1A as a candidate gene in a Turkish sample of patients with autism spectrum disorder.
Sener EF et al.
The International Journal of Neuroscience, 2022
CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.
Manzini MC et al.
Cell Reports, 2014
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