Author(s): Rolfs, Prof. Arndt, MD, Girisha, Katta, MD, Shukla, Anju, MD, Trujillano, Daniel, PhD, Bhavani, Gandham SriLakshmi, Hebbar, Malavika, MD, Kadavigere, Rajagopal, MD
Here we report the first human skeletal ciliopathy associated with a nonsense variant in IFT52, encoding an IFT-B core complex protein. Read more!
Here we report the first human skeletal ciliopathy associated with a nonsense variant in IFT52, encoding an IFT-B core complex protein.
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