Associated Papers
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.
Barroso-Gil M et al.
Molecular Genetics & Genomic Medicine, 2021
33486889 (PubMed )
Supplement: MGG3-9-e1603-s001.docx
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.
Lam Z et al.
Clinical Dysmorphology, 2020
Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2017
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