Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D. Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss. Am J Hum Genet. 2016 Sep 1;99(3):777-84.

PubMed ID: 
27588452