Associated Papers
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.
Lam Z et al.
Clinical Dysmorphology, 2020
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.
Méjécase C et al.
Clinical Genetics, 2019
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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