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CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome.

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2 Published in 2022 at "Molecular biology reports"

DOI: 10.1007/s11033-022-07353-w

Abstract: BACKGROUND The CEP104 gene (OMIM: 616,690) encodes the centrosome protein 104 (CEP104) that is involved in cilia function. Pathogenic variants in this gene have been described in four patients diagnosed with Joubert syndrome (JBTS) 25.… read more here.

Keywords: joubert syndrome; gene; cep104 gene; pathogenic variants ... See more keywords