Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
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DOI: 10.1002/mgg3.1603
Abstract: BACKGROUND Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause Joubert syndrome… read more here.
Keywords: tissue specific; genetic variants; exon; cep120 cc2d2a ... See more keywords